Linked Data
ClinVar Variation Id:
156099
ClinVar RCV Id:
RCV000144147
dbSNP Id:
rs587776445
ExAC:
10:124266250 G / A
gnomAD v2:
10-124266250-G-A
gnomAD v3:
10-122506734-G-A
gnomAD v4:
10-122506734-G-A
COSMIC:
COSM1346406
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506734G>A , CM000672.2:g.122506734G>A | GRCh38 |
| NC_000010.10:g.124266250G>A , CM000672.1:g.124266250G>A | GRCh37 |
| NC_000010.9:g.124256240G>A | NCBI36 |
| NG_011554.1:g.50210G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.821G>A MANE Select | ENSP00000357980.3:p.Arg274Gln | |
| ENST00000648167.1:c.503G>A | ENSP00000498033.1:p.Arg168Gln | |
| ENST00000368984.7:c.821G>A | ENSP00000357980.3:p.Arg274Gln | |
| ENST00000420892.1:c.44G>A | ENSP00000412676.1:p.Arg15Gln | |
| NM_002775.4:c.821G>A | NP_002766.1:p.Arg274Gln | |
| NM_002775.5:c.821G>A MANE Select | NP_002766.1:p.Arg274Gln |