Linked Data
dbSNP Id:
rs2126709
gnomAD v2:
11-123595927-C-T
gnomAD v3:
11-123725219-C-T
gnomAD v4:
11-123725219-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123725219C>T , CM000673.2:g.123725219C>T | GRCh38 |
| NC_000011.9:g.123595927C>T , CM000673.1:g.123595927C>T | GRCh37 |
| NC_000011.8:g.123101137C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530393.6:c.*778G>A MANE Select | ENSP00000432504.1:n.*778G>A | |
| ENST00000336139.8:c.*778G>A | ENSP00000337724.4:n.*778G>A | |
| ENST00000529691.1:c.*778G>A | ENSP00000433881.1:n.*778G>A | |
| ENST00000530393.5:c.*778G>A | ENSP00000432504.1:n.*778G>A | |
| NM_001301779.1:c.*778G>A | NP_001288708.1:n.*778G>A | |
| NM_001301780.1:c.*778G>A | NP_001288709.1:n.*778G>A | |
| NM_001301819.1:c.*778G>A | NP_001288748.1:n.*778G>A | |
| NM_003455.3:c.*778G>A | NP_003446.2:n.*778G>A | |
| XM_005271659.1:c.*778G>A | XP_005271716.1:n.*778G>A | |
| XM_005271660.1:c.*778G>A | XP_005271717.1:n.*778G>A | |
| XM_005271661.1:c.*778G>A | XP_005271718.1:n.*778G>A | |
| XM_005271664.1:c.*778G>A | XP_005271721.1:n.*778G>A | |
| XM_006718901.2:c.*778G>A | XP_006718964.1:n.*778G>A | |
| XM_011542972.1:c.*778G>A | XP_011541274.1:n.*778G>A | |
| XM_011542973.1:c.*778G>A | XP_011541275.1:n.*778G>A | |
| XM_011542974.1:c.*778G>A | XP_011541276.1:n.*778G>A | |
| XM_011542975.1:c.*778G>A | XP_011541277.1:n.*778G>A | |
| XM_011542976.1:c.*778G>A | XP_011541278.1:n.*778G>A | |
| XM_005271664.2:c.*778G>A | XP_005271721.1:n.*778G>A | |
| XM_017018268.2:c.*778G>A | XP_016873757.1:n.*778G>A | |
| XM_024448682.1:c.*778G>A | XP_024304450.1:n.*778G>A | |
| NM_003455.4:c.*778G>A MANE Select | NP_003446.2:n.*778G>A | |
| NM_001301779.2:c.*778G>A | NP_001288708.1:n.*778G>A | |
| NM_001301780.2:c.*778G>A | NP_001288709.1:n.*778G>A |