gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137203686C>A , CM000668.2:g.137203686C>A | GRCh38 |
| NC_000006.11:g.137524823C>A , CM000668.1:g.137524823C>A | GRCh37 |
| NC_000006.10:g.137566516C>A | NCBI36 |
| NG_007394.1:g.20745G>T , LRG_66:g.20745G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414770.6:c.517-1G>T | ENSP00000394230.2:n.517-1G>T | |
| ENST00000458076.6:c.445-1G>T | ENSP00000389249.2:n.445-1G>T | |
| ENST00000696693.1:c.424-1G>T | ENSP00000512814.1:n.424-1G>T | |
| ENST00000696694.1:c.547-1G>T | ENSP00000512815.1:n.547-1G>T | |
| ENST00000696695.1:c.547-1G>T | ENSP00000512816.1:n.547-1G>T | |
| ENST00000696696.1:c.*446-1G>T | ENSP00000512817.1:n.*446-1G>T | |
| ENST00000696697.1:c.493-1G>T | ENSP00000512818.1:n.493-1G>T | |
| ENST00000696698.1:c.591G>T | ENSP00000512819.1:p.Ter197Tyr | |
| ENST00000696699.1:c.463-1G>T | ENSP00000512820.1:n.463-1G>T | |
| ENST00000367739.9:c.547-1G>T MANE Select | ENSP00000356713.5:n.547-1G>T | |
| ENST00000642390.1:c.490-1G>T | ENSP00000496468.1:n.490-1G>T | |
| ENST00000643119.1:c.667-1G>T | ENSP00000495934.1:n.667-1G>T | |
| ENST00000644894.1:c.424-1G>T | ENSP00000495272.1:n.424-1G>T | |
| ENST00000645045.1:c.656-1G>T | ||
| ENST00000645753.1:c.424-1G>T | ENSP00000495103.1:n.424-1G>T | |
| ENST00000646036.1:c.517-1G>T | ENSP00000496387.1:n.517-1G>T | |
| ENST00000646898.1:c.517-1G>T | ENSP00000494069.1:n.517-1G>T | |
| ENST00000647124.1:c.424-1G>T | ENSP00000496549.1:n.424-1G>T | |
| ENST00000367739.8:c.547-1G>T | ENSP00000356713.4:n.547-1G>T | |
| ENST00000458076.5:c.445-1G>T | ENSP00000389249.1:n.445-1G>T | |
| ENST00000543628.5:c.547-1G>T | ENSP00000443282.2:n.547-1G>T | |
| NM_000416.2:c.547-1G>T , LRG_66t1:c.547-1G>T | NP_000407.1:n.547-1G>T | |
| XM_006715470.2:c.517-1G>T | XP_006715533.1:n.517-1G>T | |
| XM_006715471.2:c.424-1G>T | XP_006715534.1:n.424-1G>T | |
| XM_011535793.1:c.517-1G>T | XP_011534095.1:n.517-1G>T | |
| XM_011535794.1:c.517-1G>T | XP_011534096.1:n.517-1G>T | |
| NM_001363526.1:c.517-1G>T | NP_001350455.1:n.517-1G>T | |
| NM_001363527.1:c.424-1G>T | NP_001350456.1:n.424-1G>T | |
| XM_006715470.3:c.517-1G>T | XP_006715533.1:n.517-1G>T | |
| XM_011535793.2:c.517-1G>T | XP_011534095.1:n.517-1G>T | |
| NM_000416.3:c.547-1G>T MANE Select | NP_000407.1:n.547-1G>T |