Linked Data
gnomAD v4:
1-186166899-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186166899T>G , CM000663.2:g.186166899T>G | GRCh38 |
| NC_000001.10:g.186136031T>G , CM000663.1:g.186136031T>G | GRCh37 |
| NC_000001.9:g.184402654T>G | NCBI36 |
| NG_011841.1:g.437349T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15531T>G MANE Select | ENSP00000271588.4:p.Cys5177Trp | |
| ENST00000271588.8:c.15531T>G | ENSP00000271588.4:p.Cys5177Trp | |
| ENST00000475585.1:n.163-4438T>G | ||
| NM_031935.2:c.15531T>G | NP_114141.2:p.Cys5177Trp | |
| XM_011510037.1:c.15246T>G | XP_011508339.1:p.Cys5082Trp | |
| XM_011510038.1:c.15531T>G | XP_011508340.1:p.Cys5177Trp | |
| XM_011510038.3:c.15531T>G | XP_011508340.1:p.Cys5177Trp | |
| XM_017002437.1:c.13554T>G | XP_016857926.1:p.Cys4518Trp | |
| NM_031935.3:c.15531T>G MANE Select | NP_114141.2:p.Cys5177Trp |