Linked Data
dbSNP Id:
rs113041177
ExAC:
9:133308766 G / T
gnomAD v2:
9-133308766-G-T
gnomAD v3:
9-130433379-G-T
gnomAD v4:
9-130433379-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130433379G>T , CM000671.2:g.130433379G>T | GRCh38 |
| NC_000009.11:g.133308766G>T , CM000671.1:g.133308766G>T | GRCh37 |
| NC_000009.10:g.132298587G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624552.4:c.14869G>T | ENSP00000485357.2:p.Gly4957Cys | |
| ENST00000683500.2:c.14926G>T MANE Select | ENSP00000508292.2:p.Gly4976Cys | |
| ENST00000623487.1:n.3272G>T | ||
| ENST00000624552.3:c.14866G>T | ENSP00000485357.1:p.Gly4956Cys | |
| NM_001291815.1:c.14926G>T | NP_001278744.1:p.Gly4976Cys | |
| XM_011518465.1:c.14803G>T | XP_011516767.1:p.Gly4935Cys | |
| XM_011518466.1:c.14794G>T | XP_011516768.1:p.Gly4932Cys | |
| XM_011518467.1:c.14749G>T | XP_011516769.1:p.Gly4917Cys | |
| NM_001291815.2:c.14926G>T MANE Select | NP_001278744.1:p.Gly4976Cys | |
| XM_011518465.2:c.14803G>T | XP_011516767.1:p.Gly4935Cys | |
| XM_011518466.2:c.14794G>T | XP_011516768.1:p.Gly4932Cys | |
| XM_011518467.2:c.14749G>T | XP_011516769.1:p.Gly4917Cys | |
| XM_017014585.1:c.11707G>T | XP_016870074.1:p.Gly3903Cys | |
| XM_017014586.1:c.7504G>T | XP_016870075.1:p.Gly2502Cys | |
| XR_001746957.1:n.92+242C>A | ||
| XR_001746958.1:n.92+242C>A |