gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.231311828G>C , CM000664.2:g.231311828G>C | GRCh38 |
| NC_000002.11:g.232176541G>C , CM000664.1:g.232176541G>C | GRCh37 |
| NC_000002.10:g.231884785G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428662.6:c.716+15575G>C | ENSP00000388527.2:n.716+15575G>C | |
| ENST00000436339.6:c.1773+15575G>C | ENSP00000392086.2:n.1773+15575G>C | |
| ENST00000446447.6:n.823+15575G>C | ||
| ENST00000469789.2:n.1533+15575G>C | ||
| ENST00000682002.1:c.1674+15575G>C | ENSP00000507152.1:n.1674+15575G>C | |
| ENST00000682030.1:c.1770+15575G>C | ENSP00000508117.1:n.1770+15575G>C | |
| ENST00000682100.1:c.1770+15575G>C | ENSP00000507066.1:n.1770+15575G>C | |
| ENST00000682334.1:c.1773+15575G>C | ENSP00000507763.1:n.1773+15575G>C | |
| ENST00000682367.1:c.1770+15575G>C | ENSP00000507235.1:n.1770+15575G>C | |
| ENST00000683040.1:c.*100+15575G>C | ENSP00000507817.1:n.*100+15575G>C | |
| ENST00000683063.1:c.*1498+15575G>C | ENSP00000507407.1:n.*1498+15575G>C | |
| ENST00000683107.1:n.3506+15575G>C | ||
| ENST00000683112.1:c.1794+15575G>C | ENSP00000507357.1:n.1794+15575G>C | |
| ENST00000683165.1:n.1919+15575G>C | ||
| ENST00000683271.1:c.1674+15575G>C | ENSP00000507513.1:n.1674+15575G>C | |
| ENST00000683275.1:c.1908+15575G>C | ENSP00000506823.1:n.1908+15575G>C | |
| ENST00000683321.1:c.*1498+15575G>C | ENSP00000508154.1:n.*1498+15575G>C | |
| ENST00000683520.1:n.1361+15575G>C | ||
| ENST00000683553.1:c.1626+15575G>C | ENSP00000506860.1:n.1626+15575G>C | |
| ENST00000683575.1:c.1773+15575G>C | ENSP00000507743.1:n.1773+15575G>C | |
| ENST00000683629.1:c.*1498+15575G>C | ENSP00000507960.1:n.*1498+15575G>C | |
| ENST00000683702.1:c.*1498+15575G>C | ENSP00000507686.1:n.*1498+15575G>C | |
| ENST00000683966.1:c.1770+15575G>C | ENSP00000507325.1:n.1770+15575G>C | |
| ENST00000684051.1:c.*100+15575G>C | ENSP00000507854.1:n.*100+15575G>C | |
| ENST00000684368.1:c.*2974+15575G>C | ENSP00000508353.1:n.*2974+15575G>C | |
| ENST00000684432.1:c.1773+15575G>C | ENSP00000508405.1:n.1773+15575G>C | |
| ENST00000684565.1:c.*1498+15575G>C | ENSP00000507599.1:n.*1498+15575G>C | |
| ENST00000684718.1:c.1773+15575G>C | ENSP00000507543.1:n.1773+15575G>C | |
| ENST00000611582.5:c.1773+15575G>C MANE Select | ENSP00000484804.1:n.1773+15575G>C | |
| ENST00000349938.8:c.1773+15575G>C | ENSP00000258417.5:n.1773+15575G>C | |
| ENST00000428662.5:c.717+15575G>C | ||
| ENST00000486787.1:n.2434+15575G>C | ||
| ENST00000611582.4:c.1773+15575G>C | ENSP00000484804.1:n.1773+15575G>C | |
| ENST00000614261.4:c.1773+15575G>C | ENSP00000484241.1:n.1773+15575G>C | |
| NM_001271466.2:c.1773+15575G>C | NP_001258395.1:n.1773+15575G>C | |
| NM_001291656.1:c.1773+15575G>C | NP_001278585.1:n.1773+15575G>C | |
| NM_025139.5:c.1773+15575G>C | NP_079415.3:n.1773+15575G>C | |
| XM_011511905.1:c.1773+15575G>C | XP_011510207.1:n.1773+15575G>C | |
| XM_011511906.1:c.1773+15575G>C | XP_011510208.1:n.1773+15575G>C | |
| XM_011511907.1:c.1674+15575G>C | XP_011510209.1:n.1674+15575G>C | |
| XM_011511908.1:c.1773+15575G>C | XP_011510210.1:n.1773+15575G>C | |
| XM_011511909.1:c.1773+15575G>C | XP_011510211.1:n.1773+15575G>C | |
| XM_011511910.1:c.1773+15575G>C | XP_011510212.1:n.1773+15575G>C | |
| XM_011511911.1:c.1773+15575G>C | XP_011510213.1:n.1773+15575G>C | |
| XM_011511912.1:c.1773+15575G>C | XP_011510214.1:n.1773+15575G>C | |
| XM_011511913.1:c.1773+15575G>C | XP_011510215.1:n.1773+15575G>C | |
| XM_011511914.1:c.1773+15575G>C | XP_011510216.1:n.1773+15575G>C | |
| XM_011511919.1:c.699+15575G>C | XP_011510221.1:n.699+15575G>C | |
| NM_001271466.3:c.1773+15575G>C | NP_001258395.1:n.1773+15575G>C | |
| NM_001352754.1:c.1773+15575G>C | NP_001339683.1:n.1773+15575G>C | |
| NM_001352755.1:c.1773+15575G>C | NP_001339684.1:n.1773+15575G>C | |
| NM_001352756.1:c.1773+15575G>C | NP_001339685.1:n.1773+15575G>C | |
| NM_001352757.1:c.1674+15575G>C | NP_001339686.1:n.1674+15575G>C | |
| NM_001352758.1:c.1674+15575G>C | NP_001339687.1:n.1674+15575G>C | |
| NM_001352759.1:c.1773+15575G>C | NP_001339688.1:n.1773+15575G>C | |
| NR_148040.1:n.3327+15575G>C | ||
| XM_011511908.2:c.1773+15575G>C | XP_011510210.1:n.1773+15575G>C | |
| XM_011511909.2:c.1773+15575G>C | XP_011510211.1:n.1773+15575G>C | |
| XM_011511913.2:c.1773+15575G>C | XP_011510215.1:n.1773+15575G>C | |
| XM_011511914.2:c.1773+15575G>C | XP_011510216.1:n.1773+15575G>C | |
| XM_011511919.2:c.699+15575G>C | XP_011510221.1:n.699+15575G>C | |
| XM_017005021.1:c.1773+15575G>C | XP_016860510.1:n.1773+15575G>C | |
| XM_017005022.1:c.1773+15575G>C | XP_016860511.1:n.1773+15575G>C | |
| XM_017005024.1:c.1674+15575G>C | XP_016860513.1:n.1674+15575G>C | |
| XM_017005025.1:c.1773+15575G>C | XP_016860514.1:n.1773+15575G>C | |
| NM_001271466.4:c.1773+15575G>C | NP_001258395.2:n.1773+15575G>C | |
| NM_001291656.2:c.1773+15575G>C | NP_001278585.2:n.1773+15575G>C | |
| NM_001352754.2:c.1773+15575G>C MANE Select | NP_001339683.2:n.1773+15575G>C | |
| NM_001352755.2:c.1773+15575G>C | NP_001339684.2:n.1773+15575G>C | |
| NM_001352756.2:c.1773+15575G>C | NP_001339685.2:n.1773+15575G>C | |
| NM_001352757.2:c.1674+15575G>C | NP_001339686.2:n.1674+15575G>C | |
| NM_001352758.2:c.1674+15575G>C | NP_001339687.2:n.1674+15575G>C | |
| NM_001352759.2:c.1773+15575G>C | NP_001339688.2:n.1773+15575G>C | |
| NM_025139.6:c.1773+15575G>C | NP_079415.4:n.1773+15575G>C | |
| NR_148040.2:n.3242+15575G>C |