Linked Data
ClinVar Variation Id:
190155
dbSNP Id:
rs767247987
ExAC:
10:50691430 G / A
gnomAD v2:
10-50691430-G-A
gnomAD v4:
10-49483384-G-A
COSMIC:
COSM3415080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49483384G>A , CM000672.2:g.49483384G>A | GRCh38 |
| NC_000010.10:g.50691430G>A , CM000672.1:g.50691430G>A | GRCh37 |
| NC_000010.9:g.50361436G>A | NCBI36 |
| NG_009442.1:g.60718C>T , LRG_465:g.60718C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1954C>T MANE Select | ENSP00000348089.5:p.Arg652Ter | |
| ENST00000681632.1:n.2032C>T | ||
| ENST00000681659.1:c.1795C>T | ENSP00000505631.1:p.Arg599Ter | |
| ENST00000355832.9:c.1954C>T | ENSP00000348089.5:p.Arg652Ter | |
| ENST00000475116.1:n.408C>T | ||
| ENST00000623073.3:c.*346C>T | ENSP00000485650.1:n.*346C>T | |
| ENST00000623115.3:c.64C>T | ENSP00000485321.1:p.Arg22Ter | |
| NM_000124.3:c.1954C>T | NP_000115.1:p.Arg652Ter | |
| NM_001346440.1:c.1954C>T | NP_001333369.1:p.Arg652Ter | |
| NM_000124.4:c.1954C>T MANE Select | NP_000115.1:p.Arg652Ter | |
| NM_001346440.2:c.1954C>T | NP_001333369.1:p.Arg652Ter |