Linked Data
dbSNP Id:
rs750736791
ExAC:
1:116226649 A / G
gnomAD v2:
1-116226649-A-G
gnomAD v4:
1-115684028-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115684028A>G , CM000663.2:g.115684028A>G | GRCh38 |
| NC_000001.10:g.116226649A>G , CM000663.1:g.116226649A>G | GRCh37 |
| NC_000001.9:g.116028172A>G | NCBI36 |
| NG_016548.1:g.47076A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355485.7:c.1031A>G MANE Select | ENSP00000347672.2:p.Tyr344Cys | |
| ENST00000310260.7:c.1031A>G | ENSP00000310800.3:p.Tyr344Cys | |
| ENST00000355485.6:c.1031A>G | ENSP00000347672.2:p.Tyr344Cys | |
| ENST00000369509.1:c.1031A>G | ENSP00000358522.1:p.Tyr344Cys | |
| ENST00000369510.8:c.1025A>G | ENSP00000358523.3:p.Tyr342Cys | |
| ENST00000474344.1:n.413A>G | ||
| ENST00000478369.5:n.315A>G | ||
| NM_001172411.1:c.1025A>G | NP_001165882.1:p.Tyr342Cys | |
| NM_001172412.1:c.1031A>G | NP_001165883.1:p.Tyr344Cys | |
| NM_138959.2:c.1031A>G | NP_620409.1:p.Tyr344Cys | |
| NM_138959.3:c.1031A>G MANE Select | NP_620409.1:p.Tyr344Cys | |
| NM_001172411.2:c.1025A>G | NP_001165882.1:p.Tyr342Cys | |
| NM_001172412.2:c.1031A>G | NP_001165883.1:p.Tyr344Cys |