Linked Data
dbSNP Id:
rs763344243
ExAC:
3:133475768 T / G
gnomAD v2:
3-133475768-T-G
gnomAD v3:
3-133756924-T-G
gnomAD v4:
3-133756924-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133756924T>G , CM000665.2:g.133756924T>G | GRCh38 |
| NC_000003.11:g.133475768T>G , CM000665.1:g.133475768T>G | GRCh37 |
| NC_000003.10:g.134958458T>G | NCBI36 |
| NG_013080.1:g.15792T>G | |
| NG_013080.2:g.99927T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.785T>G MANE Select | ENSP00000385834.3:p.Leu262Trp | |
| ENST00000402696.7:c.785T>G | ENSP00000385834.3:p.Leu262Trp | |
| ENST00000485977.1:c.158-8T>G | ENSP00000418716.1:n.158-8T>G | |
| NM_001063.3:c.785T>G | NP_001054.1:p.Leu262Trp | |
| XM_011513100.1:c.785T>G | XP_011511402.1:p.Leu262Trp | |
| NM_001354703.1:c.653T>G | NP_001341632.1:p.Leu218Trp | |
| NM_001354704.1:c.404T>G | NP_001341633.1:p.Leu135Trp | |
| NM_001063.4:c.785T>G MANE Select | NP_001054.2:p.Leu262Trp | |
| NM_001354703.2:c.653T>G | NP_001341632.2:p.Leu218Trp | |
| NM_001354704.2:c.404T>G | NP_001341633.2:p.Leu135Trp |