gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000445 (AFR)
Genomes Max Group AF
0.00000802 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74837253G>T , CM000677.2:g.74837253G>T | GRCh38 |
| NC_000015.9:g.75129594G>T , CM000677.1:g.75129594G>T | GRCh37 |
| NC_000015.8:g.72916647G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440863.7:c.1403-9C>A MANE Select | ENSP00000400312.2:n.1403-9C>A | |
| ENST00000647587.1:c.*1417-9C>A | ENSP00000497403.1:n.*1417-9C>A | |
| ENST00000440863.6:c.1403-9C>A | ENSP00000400312.2:n.1403-9C>A | |
| ENST00000561725.5:n.1612-9C>A | ||
| ENST00000565881.5:n.1520-9C>A | ||
| ENST00000566479.5:n.1589-9C>A | ||
| ENST00000566631.5:c.*1071-9C>A | ENSP00000455395.1:n.*1071-9C>A | |
| ENST00000567472.5:n.230-9C>A | ||
| ENST00000568210.5:c.*1281-9C>A | ENSP00000456296.1:n.*1281-9C>A | |
| ENST00000568273.5:c.*1204-9C>A | ENSP00000454583.1:n.*1204-9C>A | |
| ENST00000568667.5:c.1436-9C>A | ENSP00000457853.1:n.1436-9C>A | |
| ENST00000568718.5:n.268-9C>A | ||
| ENST00000569437.5:c.1397-9C>A | ENSP00000456051.1:n.1397-9C>A | |
| ENST00000570276.5:n.1825-9C>A | ||
| NM_001099436.3:c.1403-9C>A | NP_001092906.3:n.1403-9C>A | |
| NM_001284364.2:c.1397-9C>A | NP_001271293.2:n.1397-9C>A | |
| NM_001284365.2:c.1052-9C>A | NP_001271294.1:n.1052-9C>A | |
| NR_104307.2:n.1690-9C>A | ||
| NR_104308.2:n.1680-9C>A | ||
| NR_104309.2:n.1671-9C>A | ||
| XM_005254289.2:c.1436-9C>A | XP_005254346.1:n.1436-9C>A | |
| XR_931789.1:n.1477-9C>A | ||
| XR_931790.1:n.1471-9C>A | ||
| XR_931791.1:n.1402-9C>A | ||
| XR_931792.1:n.1299-9C>A | ||
| XM_017022068.1:c.1430-9C>A | XP_016877557.1:n.1430-9C>A | |
| XM_017022069.1:c.1133-9C>A | XP_016877558.1:n.1133-9C>A | |
| XM_017022070.1:c.1133-9C>A | XP_016877559.1:n.1133-9C>A | |
| XM_017022071.1:c.1127-9C>A | XP_016877560.1:n.1127-9C>A | |
| XM_017022072.1:c.1127-9C>A | XP_016877561.1:n.1127-9C>A | |
| XM_024449897.1:c.1127-9C>A | XP_024305665.1:n.1127-9C>A | |
| XR_001751209.2:n.1361-9C>A | ||
| XR_001751210.2:n.1355-9C>A | ||
| XR_931789.2:n.1460-9C>A | ||
| XR_931790.2:n.1454-9C>A | ||
| XR_931791.2:n.1385-9C>A | ||
| XR_931792.2:n.1282-9C>A | ||
| NM_001099436.4:c.1403-9C>A MANE Select | NP_001092906.3:n.1403-9C>A | |
| NM_001284364.3:c.1397-9C>A | NP_001271293.2:n.1397-9C>A | |
| NM_001284365.3:c.1052-9C>A | NP_001271294.1:n.1052-9C>A | |
| NR_104307.3:n.1635-9C>A | ||
| NR_104308.3:n.1625-9C>A | ||
| NR_104309.3:n.1616-9C>A |