Linked Data
ClinVar Variation Id:
9262
ClinVar RCV Id:
RCV000009844
dbSNP Id:
rs137852640
gnomAD v2:
1-120306854-T-C
gnomAD v3:
1-119764231-T-C
gnomAD v4:
1-119764231-T-C
PubMed:
PMID:12647205
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119764231T>C , CM000663.2:g.119764231T>C | GRCh38 |
| NC_000001.10:g.120306854T>C , CM000663.1:g.120306854T>C | GRCh37 |
| NC_000001.9:g.120108377T>C | NCBI36 |
| NG_013348.1:g.9702A>G , LRG_447:g.9702A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.500A>G MANE Select | ENSP00000358414.3:p.Tyr167Cys | |
| ENST00000369406.7:c.500A>G | ENSP00000358414.3:p.Tyr167Cys | |
| ENST00000476640.1:n.396A>G | ||
| ENST00000544913.2:c.500A>G | ENSP00000439495.2:p.Tyr167Cys | |
| NM_001166107.1:c.500A>G , LRG_447t2:c.500A>G | NP_001159579.1:p.Tyr167Cys | |
| NM_005518.3:c.500A>G , LRG_447t1:c.500A>G | NP_005509.1:p.Tyr167Cys | |
| XM_011541313.1:c.500A>G | XP_011539615.1:p.Tyr167Cys | |
| XM_011541313.2:c.500A>G | XP_011539615.1:p.Tyr167Cys | |
| NM_005518.4:c.500A>G MANE Select | NP_005509.1:p.Tyr167Cys |