Linked Data
ClinVar Variation Id:
189022
dbSNP Id:
rs781542763
ExAC:
9:97933362 G / A
gnomAD v2:
9-97933362-G-A
gnomAD v4:
9-95171080-G-A
COSMIC:
COSM3909140
PubMed:
PMID:9452030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95171080G>A , CM000671.2:g.95171080G>A | GRCh38 |
| NC_000009.11:g.97933362G>A , CM000671.1:g.97933362G>A | GRCh37 |
| NC_000009.10:g.96973183G>A | NCBI36 |
| NG_011707.1:g.151630C>T , LRG_497:g.151630C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696261.1:n.911C>T | ||
| ENST00000289081.8:c.520C>T MANE Select | ENSP00000289081.3:p.Arg174Ter | |
| ENST00000375305.6:c.520C>T | ENSP00000364454.1:p.Arg174Ter | |
| ENST00000490972.7:c.520C>T | ENSP00000479931.1:p.Arg174Ter | |
| ENST00000636777.1:n.578C>T | ||
| ENST00000649334.1:c.665C>T | ENSP00000497735.1:n.665C>T | |
| ENST00000649701.1:n.235C>T | ||
| ENST00000289081.7:c.520C>T | ENSP00000289081.3:p.Arg174Ter | |
| ENST00000375305.5:c.520C>T | ENSP00000364454.1:p.Arg174Ter | |
| ENST00000490972.6:c.520C>T | ENSP00000479931.1:p.Arg174Ter | |
| NM_000136.2:c.520C>T , LRG_497t1:c.520C>T | NP_000127.2:p.Arg174Ter | |
| NM_001243743.1:c.520C>T | NP_001230672.1:p.Arg174Ter | |
| NM_001243744.1:c.520C>T | NP_001230673.1:p.Arg174Ter | |
| XM_006717001.1:c.520C>T | XP_006717064.1:p.Arg174Trp | |
| XM_006717002.2:c.520C>T | XP_006717065.1:p.Arg174Ter | |
| XM_006717004.2:c.520C>T | XP_006717067.1:p.Arg174Ter | |
| XM_011518365.1:c.520C>T | XP_011516667.1:p.Arg174Ter | |
| XM_011518366.1:c.520C>T | XP_011516668.1:p.Arg174Ter | |
| XM_011518367.1:c.64C>T | XP_011516669.1:p.Arg22Ter | |
| XM_006717001.3:c.520C>T | XP_006717064.1:p.Arg174Trp | |
| XM_006717002.4:c.520C>T | XP_006717065.1:p.Arg174Ter | |
| XM_006717004.4:c.520C>T | XP_006717067.1:p.Arg174Ter | |
| XM_011518365.3:c.520C>T | XP_011516667.1:p.Arg174Ter | |
| XM_011518366.3:c.520C>T | XP_011516668.1:p.Arg174Ter | |
| XM_011518367.2:c.64C>T | XP_011516669.1:p.Arg22Ter | |
| XM_017014452.2:c.64C>T | XP_016869941.1:p.Arg22Ter | |
| XM_017014453.1:c.64C>T | XP_016869942.1:p.Arg22Ter | |
| XM_017014454.1:c.64C>T | XP_016869943.1:p.Arg22Trp | |
| XM_024447451.1:c.520C>T | XP_024303219.1:p.Arg174Ter | |
| NM_000136.3:c.520C>T MANE Select | NP_000127.2:p.Arg174Ter | |
| NM_001243743.2:c.520C>T | NP_001230672.1:p.Arg174Ter | |
| NM_001243744.2:c.520C>T | NP_001230673.1:p.Arg174Ter |