gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58383035 (EAS)
Genomes Max Group AF
0.58383035 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63284300G>T , CM000664.2:g.63284300G>T | GRCh38 |
| NC_000002.11:g.63511435G>T , CM000664.1:g.63511435G>T | GRCh37 |
| NC_000002.10:g.63364939G>T | NCBI36 |
| NG_028144.1:g.309433C>A | |
| NG_028144.2:g.561526C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272321.12:c.1813-24891C>A MANE Select | ENSP00000272321.7:n.1813-24891C>A | |
| ENST00000272321.11:c.1813-24891C>A | ENSP00000272321.7:n.1813-24891C>A | |
| ENST00000398544.7:c.1336-24891C>A | ENSP00000381552.3:n.1336-24891C>A | |
| ENST00000409120.5:c.1237-24891C>A | ENSP00000386769.1:n.1237-24891C>A | |
| ENST00000409199.5:c.1237-24891C>A | ENSP00000386592.1:n.1237-24891C>A | |
| ENST00000409354.6:c.1173+28948C>A | ENSP00000386795.2:n.1173+28948C>A | |
| ENST00000409562.7:c.1812+28948C>A | ENSP00000387222.3:n.1812+28948C>A | |
| NM_001042692.2:c.1336-24891C>A | NP_001036157.1:n.1336-24891C>A | |
| NM_015910.5:c.1813-24891C>A | NP_056994.3:n.1813-24891C>A | |
| NR_122106.1:n.1460-24891C>A | ||
| XM_005264348.2:c.1813-24891C>A | XP_005264405.1:n.1813-24891C>A | |
| XM_011532881.1:c.1741-24891C>A | XP_011531183.1:n.1741-24891C>A | |
| XM_011532882.1:c.1714-24891C>A | XP_011531184.1:n.1714-24891C>A | |
| XM_011532883.1:c.1813-24891C>A | XP_011531185.1:n.1813-24891C>A | |
| XM_011532884.1:c.1813-24891C>A | XP_011531186.1:n.1813-24891C>A | |
| XM_011532885.1:c.1813-24891C>A | XP_011531187.1:n.1813-24891C>A | |
| XM_011532887.1:c.1813-24891C>A | XP_011531189.1:n.1813-24891C>A | |
| XR_244934.1:n.2060-24891C>A | ||
| XR_244935.1:n.2059+28948C>A | ||
| XR_939686.1:n.2060-24891C>A | ||
| NM_001042692.3:c.1336-24891C>A | NP_001036157.1:n.1336-24891C>A | |
| NM_001354044.1:c.1741-24891C>A | NP_001340973.1:n.1741-24891C>A | |
| NM_015910.6:c.1813-24891C>A | NP_056994.3:n.1813-24891C>A | |
| NR_122106.2:n.1460-24891C>A | ||
| NR_148704.1:n.2593-24891C>A | ||
| NR_148705.1:n.2340+28948C>A | ||
| XM_005264348.4:c.1813-24891C>A | XP_005264405.1:n.1813-24891C>A | |
| XM_011532881.3:c.1741-24891C>A | XP_011531183.1:n.1741-24891C>A | |
| XM_011532884.3:c.1813-24891C>A | XP_011531186.1:n.1813-24891C>A | |
| XM_011532887.3:c.1813-24891C>A | XP_011531189.1:n.1813-24891C>A | |
| XM_017004254.2:c.1812+28948C>A | XP_016859743.1:n.1812+28948C>A | |
| XR_001738759.2:n.2274+28948C>A | ||
| XR_001738760.2:n.2270-24891C>A | ||
| XR_002959303.1:n.2275-24891C>A | ||
| XR_244934.3:n.2275-24891C>A | ||
| NM_015910.7:c.1813-24891C>A MANE Select | NP_056994.3:n.1813-24891C>A | |
| NM_001354044.2:c.1741-24891C>A | NP_001340973.1:n.1741-24891C>A | |
| NR_148704.2:n.2271-24891C>A | ||
| NR_148705.2:n.2018+28948C>A |