Linked Data
dbSNP Id:
rs373354532
ExAC:
1:111663365 T / A
gnomAD v2:
1-111663365-T-A
gnomAD v3:
1-111120743-T-A
gnomAD v4:
1-111120743-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111120743T>A , CM000663.2:g.111120743T>A | GRCh38 |
| NC_000001.10:g.111663365T>A , CM000663.1:g.111663365T>A | GRCh37 |
| NC_000001.9:g.111464888T>A | NCBI36 |
| NG_053089.1:g.24474A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484310.6:c.340-50A>T MANE Select | ENSP00000503400.1:n.340-50A>T | |
| ENST00000539140.6:c.340-50A>T | ENSP00000437718.1:n.340-50A>T | |
| ENST00000286692.8:c.340-50A>T | ENSP00000286692.4:n.340-50A>T | |
| ENST00000461449.5:n.114-50A>T | ||
| ENST00000462092.5:n.661-50A>T | ||
| ENST00000480600.6:n.356-50A>T | ||
| ENST00000484310.5:n.584-50A>T | ||
| ENST00000496430.6:c.*27-50A>T | ENSP00000473779.1:n.*27-50A>T | |
| ENST00000539140.5:c.340-50A>T | ENSP00000437718.1:n.340-50A>T | |
| NM_178454.4:c.340-50A>T | NP_848549.3:n.340-50A>T | |
| XM_005270469.1:c.340-50A>T | XP_005270526.1:n.340-50A>T | |
| XM_005270470.1:c.340-50A>T | XP_005270527.1:n.340-50A>T | |
| XM_006710361.1:c.70-50A>T | XP_006710424.1:n.70-50A>T | |
| XM_006710362.1:c.70-50A>T | XP_006710425.1:n.70-50A>T | |
| XM_011540707.1:c.340-50A>T | XP_011539009.1:n.340-50A>T | |
| XM_011540708.1:c.340-50A>T | XP_011539010.1:n.340-50A>T | |
| NM_001349881.1:c.340-50A>T | NP_001336810.1:n.340-50A>T | |
| NM_001349882.1:c.340-50A>T | NP_001336811.1:n.340-50A>T | |
| NM_001349884.1:c.340-50A>T | NP_001336813.1:n.340-50A>T | |
| NM_001349885.1:c.340-50A>T | NP_001336814.1:n.340-50A>T | |
| NM_001349886.1:c.70-50A>T | NP_001336815.1:n.70-50A>T | |
| NM_001349887.1:c.70-50A>T | NP_001336816.1:n.70-50A>T | |
| NM_001349888.1:c.70-50A>T | NP_001336817.1:n.70-50A>T | |
| NM_001349889.1:c.-51-50A>T | NP_001336818.1:n.-51-50A>T | |
| NM_001349890.1:c.-51-50A>T | NP_001336819.1:n.-51-50A>T | |
| NM_001349891.1:c.-51-50A>T | NP_001336820.1:n.-51-50A>T | |
| NM_001349892.1:c.-51-50A>T | NP_001336821.1:n.-51-50A>T | |
| NM_001349893.1:c.-51-50A>T | NP_001336822.1:n.-51-50A>T | |
| NM_178454.5:c.340-50A>T | NP_848549.3:n.340-50A>T | |
| NR_146301.1:n.597-50A>T | ||
| NR_146302.1:n.457-50A>T | ||
| NR_146303.1:n.808-50A>T | ||
| NR_146304.1:n.668-50A>T | ||
| NR_146305.1:n.651-50A>T | ||
| NR_146306.1:n.623-50A>T | ||
| NR_146307.1:n.696-50A>T | ||
| NR_146308.1:n.763-50A>T | ||
| NM_001349881.2:c.340-50A>T | NP_001336810.1:n.340-50A>T | |
| NM_001349882.2:c.340-50A>T | NP_001336811.1:n.340-50A>T | |
| NM_001349884.2:c.340-50A>T MANE Select | NP_001336813.1:n.340-50A>T | |
| NM_001349885.2:c.340-50A>T | NP_001336814.1:n.340-50A>T | |
| NM_001349886.2:c.70-50A>T | NP_001336815.1:n.70-50A>T | |
| NM_001349887.2:c.70-50A>T | NP_001336816.1:n.70-50A>T | |
| NM_001349888.2:c.70-50A>T | NP_001336817.1:n.70-50A>T | |
| NM_001349889.2:c.-51-50A>T | NP_001336818.1:n.-51-50A>T | |
| NM_001349890.2:c.-51-50A>T | NP_001336819.1:n.-51-50A>T | |
| NM_001349891.2:c.-51-50A>T | NP_001336820.1:n.-51-50A>T | |
| NM_001349892.2:c.-51-50A>T | NP_001336821.1:n.-51-50A>T | |
| NM_001349893.2:c.-51-50A>T | NP_001336822.1:n.-51-50A>T | |
| NM_178454.6:c.340-50A>T | NP_848549.3:n.340-50A>T | |
| NR_146301.2:n.474-50A>T | ||
| NR_146302.2:n.334-50A>T | ||
| NR_146303.2:n.685-50A>T | ||
| NR_146304.2:n.545-50A>T | ||
| NR_146305.2:n.528-50A>T | ||
| NR_146306.2:n.500-50A>T | ||
| NR_146307.2:n.573-50A>T | ||
| NR_146308.2:n.640-50A>T |