gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10164984C>A , CM000681.2:g.10164984C>A | GRCh38 |
| NC_000019.9:g.10275660C>A , CM000681.1:g.10275660C>A | GRCh37 |
| NC_000019.8:g.10136660C>A | NCBI36 |
| NG_028016.3:g.71303G>T , LRG_362:g.71303G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.891+1614G>T MANE Select | ENSP00000352516.3:n.891+1614G>T | |
| ENST00000676604.1:n.503+1608G>T | ||
| ENST00000676610.1:c.843+1614G>T | ENSP00000504236.1:n.843+1614G>T | |
| ENST00000676820.1:n.899+1614G>T | ||
| ENST00000677013.1:c.*533+1614G>T | ENSP00000503135.1:n.*533+1614G>T | |
| ENST00000677250.1:c.756-1624G>T | ENSP00000502894.1:n.756-1624G>T | |
| ENST00000677616.1:c.534+1608G>T | ENSP00000503055.1:n.534+1608G>T | |
| ENST00000677634.1:c.843+1614G>T | ENSP00000504246.1:n.843+1614G>T | |
| ENST00000677685.1:c.*68+1614G>T | ENSP00000503407.1:n.*68+1614G>T | |
| ENST00000677946.1:c.843+1614G>T | ENSP00000504202.1:n.843+1614G>T | |
| ENST00000678024.1:n.986+1608G>T | ||
| ENST00000678804.1:c.843+1614G>T | ENSP00000503853.1:n.843+1614G>T | |
| ENST00000679103.1:c.843+1614G>T | ENSP00000503151.1:n.843+1614G>T | |
| ENST00000679313.1:c.843+1614G>T | ENSP00000504512.1:n.843+1614G>T | |
| ENST00000340748.8:c.843+1614G>T | ENSP00000345739.3:n.843+1614G>T | |
| ENST00000359526.8:c.891+1614G>T | ENSP00000352516.3:n.891+1614G>T | |
| ENST00000540357.5:c.-166+1614G>T | ENSP00000440457.2:n.-166+1614G>T | |
| ENST00000589349.5:n.74+1614G>T | ||
| ENST00000591764.1:n.69+1614G>T | ||
| ENST00000592705.5:c.*581+1614G>T | ENSP00000466657.1:n.*581+1614G>T | |
| NM_001130823.1:c.891+1614G>T , LRG_362t1:c.891+1614G>T | NP_001124295.1:n.891+1614G>T | |
| NM_001379.2:c.843+1614G>T | NP_001370.1:n.843+1614G>T | |
| XM_011527772.1:c.891+1614G>T | XP_011526074.1:n.891+1614G>T | |
| XM_011527773.1:c.843+1614G>T | XP_011526075.1:n.843+1614G>T | |
| XM_011527774.1:c.480+1614G>T | XP_011526076.1:n.480+1614G>T | |
| NM_001130823.2:c.891+1614G>T | NP_001124295.1:n.891+1614G>T | |
| NM_001318730.1:c.843+1614G>T | NP_001305659.1:n.843+1614G>T | |
| NM_001318731.1:c.528+1614G>T | NP_001305660.1:n.528+1614G>T | |
| NM_001379.3:c.843+1614G>T | NP_001370.1:n.843+1614G>T | |
| NM_001130823.3:c.891+1614G>T MANE Select | NP_001124295.1:n.891+1614G>T | |
| NM_001318730.2:c.843+1614G>T | NP_001305659.1:n.843+1614G>T | |
| NM_001318731.2:c.528+1614G>T | NP_001305660.1:n.528+1614G>T | |
| NM_001379.4:c.843+1614G>T | NP_001370.1:n.843+1614G>T |