Linked Data
dbSNP Id:
rs1301904312
gnomAD v2:
12-58158182-G-A
gnomAD v4:
12-57764399-G-A
COSMIC:
COSM942219
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764399G>A , CM000674.2:g.57764399G>A | GRCh38 |
| NC_000012.11:g.58158182G>A , CM000674.1:g.58158182G>A | GRCh37 |
| NC_000012.10:g.56444449G>A | NCBI36 |
| NG_007076.1:g.7795C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1196C>T | ENSP00000518840.1:p.Ala399Val | |
| ENST00000713545.1:c.*120C>T | ENSP00000518841.1:n.*120C>T | |
| ENST00000228606.9:c.1115C>T MANE Select | ENSP00000228606.4:p.Ala372Val | |
| ENST00000228606.8:c.1115C>T | ENSP00000228606.4:p.Ala372Val | |
| ENST00000546567.5:c.410C>T | ENSP00000449472.1:p.Ala137Val | |
| ENST00000547344.5:n.1254C>T | ||
| NM_000785.3:c.1115C>T | NP_000776.1:p.Ala372Val | |
| NM_000785.4:c.1115C>T MANE Select | NP_000776.1:p.Ala372Val |