Linked Data
ClinVar Variation Id:
3166258
ClinVar RCV Id:
RCV004459659
dbSNP Id:
rs569499054
ExAC:
13:37453435 T / C
gnomAD v2:
13-37453435-T-C
gnomAD v3:
13-36879298-T-C
gnomAD v4:
13-36879298-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36879298T>C , CM000675.2:g.36879298T>C | GRCh38 |
| NC_000013.10:g.37453435T>C , CM000675.1:g.37453435T>C | GRCh37 |
| NC_000013.9:g.36351435T>C | NCBI36 |
| NG_016963.1:g.45975A>G , LRG_703:g.45975A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350148.10:c.392A>G | ENSP00000239885.6:p.Tyr131Cys | |
| ENST00000379826.5:c.392A>G MANE Select | ENSP00000369154.4:p.Tyr131Cys | |
| ENST00000399275.7:c.392A>G | ENSP00000382216.3:p.Tyr131Cys | |
| ENST00000350148.9:c.392A>G | ENSP00000239885.6:p.Tyr131Cys | |
| ENST00000379826.4:c.392A>G | ENSP00000369154.4:p.Tyr131Cys | |
| ENST00000399275.6:c.392A>G | ENSP00000382216.2:p.Tyr131Cys | |
| NM_001127217.2:c.392A>G , LRG_703t1:c.392A>G | NP_001120689.1:p.Tyr131Cys | |
| NM_005905.5:c.392A>G | NP_005896.1:p.Tyr131Cys | |
| XM_005266401.2:c.392A>G | XP_005266458.1:p.Tyr131Cys | |
| XM_005266403.2:c.392A>G | XP_005266460.1:p.Tyr131Cys | |
| XM_005266404.2:c.392A>G | XP_005266461.1:p.Tyr131Cys | |
| XM_006719827.2:c.392A>G | XP_006719890.1:p.Tyr131Cys | |
| XM_011535096.1:c.392A>G | XP_011533398.1:p.Tyr131Cys | |
| XM_005266401.3:c.392A>G | XP_005266458.1:p.Tyr131Cys | |
| XM_005266403.3:c.392A>G | XP_005266460.1:p.Tyr131Cys | |
| XM_005266404.3:c.392A>G | XP_005266461.1:p.Tyr131Cys | |
| XM_006719827.3:c.392A>G | XP_006719890.1:p.Tyr131Cys | |
| NM_001127217.3:c.392A>G MANE Select | NP_001120689.1:p.Tyr131Cys | |
| NM_005905.6:c.392A>G | NP_005896.1:p.Tyr131Cys | |
| NM_001378621.1:c.392A>G | NP_001365550.1:p.Tyr131Cys |