Linked Data
dbSNP Id:
rs181947843
gnomAD v2:
12-108547387-G-A
gnomAD v3:
12-108153610-G-A
gnomAD v4:
12-108153610-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108153610G>A , CM000674.2:g.108153610G>A | GRCh38 |
| NC_000012.11:g.108547387G>A , CM000674.1:g.108547387G>A | GRCh37 |
| NC_000012.10:g.107071517G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547525.6:c.-552+23684G>A MANE Select | ENSP00000448047.1:n.-552+23684G>A | |
| ENST00000332082.8:c.-708-13815G>A | ENSP00000331933.4:n.-708-13815G>A | |
| ENST00000546401.1:n.130+21750G>A | ||
| ENST00000547525.5:c.-552+23684G>A | ENSP00000448047.1:n.-552+23684G>A | |
| ENST00000550529.5:n.325-13815G>A | ||
| ENST00000551057.5:n.82-13815G>A | ||
| ENST00000551106.1:n.339+3704G>A | ||
| ENST00000551638.5:c.-78+23684G>A | ENSP00000446744.1:n.-78+23684G>A | |
| ENST00000551734.1:n.81-18064G>A | ||
| ENST00000552195.5:n.338-18064G>A | ||
| NM_001304447.1:c.-708-13815G>A | NP_001291376.1:n.-708-13815G>A | |
| NM_014653.3:c.-552+23684G>A | NP_055468.2:n.-552+23684G>A | |
| XM_011539015.1:c.-708-13815G>A | XP_011537317.1:n.-708-13815G>A | |
| XM_011539016.1:c.-552+23684G>A | XP_011537318.1:n.-552+23684G>A | |
| XM_011539017.1:c.-869-13815G>A | XP_011537319.1:n.-869-13815G>A | |
| XM_011539018.1:c.-708-13815G>A | XP_011537320.1:n.-708-13815G>A | |
| XM_011539019.1:c.-869-13815G>A | XP_011537321.1:n.-869-13815G>A | |
| XM_011539020.1:c.-552+21750G>A | XP_011537322.1:n.-552+21750G>A | |
| XM_011539021.1:c.-712-18064G>A | XP_011537323.1:n.-712-18064G>A | |
| XM_011539022.1:c.-708-13815G>A | XP_011537324.1:n.-708-13815G>A | |
| XM_011539023.1:c.-708-13815G>A | XP_011537325.1:n.-708-13815G>A | |
| XR_944841.1:n.585-13815G>A | ||
| XM_017020243.1:c.-708-13815G>A | XP_016875732.1:n.-708-13815G>A | |
| XM_017020244.1:c.-869-13815G>A | XP_016875733.1:n.-869-13815G>A | |
| XM_017020245.1:c.-869-13815G>A | XP_016875734.1:n.-869-13815G>A | |
| XM_017020246.2:c.-552+21750G>A | XP_016875735.1:n.-552+21750G>A | |
| XM_017020247.1:c.-712-18064G>A | XP_016875736.1:n.-712-18064G>A | |
| XM_017020248.1:c.-712-18064G>A | XP_016875737.1:n.-712-18064G>A | |
| XM_017020249.1:c.-869-13815G>A | XP_016875738.1:n.-869-13815G>A | |
| XM_017020250.2:c.-552+23684G>A | XP_016875739.1:n.-552+23684G>A | |
| XM_017020251.2:c.-708-13815G>A | XP_016875740.1:n.-708-13815G>A | |
| XM_017020252.1:c.-712-18064G>A | XP_016875741.1:n.-712-18064G>A | |
| XR_001748924.2:n.360+23684G>A | ||
| XR_001748925.2:n.112+21750G>A | ||
| XR_001748926.2:n.360+23684G>A | ||
| XR_944841.2:n.585-13815G>A | ||
| NM_014653.4:c.-552+23684G>A MANE Select | NP_055468.2:n.-552+23684G>A | |
| NM_001304447.2:c.-708-13815G>A | NP_001291376.1:n.-708-13815G>A |