Linked Data
dbSNP Id:
rs764342851
ExAC:
1:196965191 A / G
gnomAD v2:
1-196965191-A-G
gnomAD v3:
1-196996061-A-G
gnomAD v4:
1-196996061-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996061A>G , CM000663.2:g.196996061A>G | GRCh38 |
| NC_000001.10:g.196965191A>G , CM000663.1:g.196965191A>G | GRCh37 |
| NC_000001.9:g.195231814A>G | NCBI36 |
| NG_016365.1:g.23525A>G , LRG_227:g.23525A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.575A>G | ENSP00000514393.1:p.Tyr192Cys | |
| ENST00000699467.1:n.899A>G | ||
| ENST00000699468.1:c.-24-53A>G | ENSP00000514394.1:n.-24-53A>G | |
| ENST00000256785.5:c.830A>G MANE Select | ENSP00000256785.4:p.Tyr277Cys | |
| ENST00000256785.4:c.830A>G | ENSP00000256785.4:p.Tyr277Cys | |
| NM_030787.3:c.830A>G , LRG_227t1:c.830A>G | NP_110414.1:p.Tyr277Cys | |
| XM_011510020.1:c.839A>G | XP_011508322.1:p.Tyr280Cys | |
| XM_011510020.2:c.839A>G | XP_011508322.1:p.Tyr280Cys | |
| NM_030787.4:c.830A>G MANE Select | NP_110414.1:p.Tyr277Cys |