Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs139194953
- Species
- Homo sapiens
- Symbol
- rs139194953
- Category
- Variant
- Variant type
- SNP
- Overlaps
- MYL6B
- Location
- 12:56157480
- Nucleotide Change
- C>G
- Most Severe Consequence
- See all consequences
- intron variant&non coding transcript variant
- HGVS.g name
- NC_000012.12:g.56157480C>G
- HGVS.c name
- ENSEMBL:ENST00000548548.1:n.544C>G
- ENSEMBL:ENST00000548571.1:n.31C>G
- HGVS.p name
- ENSP00000446643:p.Thr178Ser
- ENSP00000446965:p.Thr145Ser
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr12:56152256...56159647 (7.39 kb)
- Assembly version
- Not Available
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