gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95065649 (NFE)
Genomes Max Group AF
0.95065649 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.84327290G>T , CM000663.2:g.84327290G>T | GRCh38 |
| NC_000001.10:g.84792973G>T , CM000663.1:g.84792973G>T | GRCh37 |
| NC_000001.9:g.84565561G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394834.8:c.165+1542G>T MANE Select | ENSP00000378311.3:n.165+1542G>T | |
| ENST00000370668.7:c.165+1542G>T | ENSP00000359702.3:n.165+1542G>T | |
| ENST00000370669.5:c.165+1542G>T | ENSP00000359703.1:n.165+1542G>T | |
| ENST00000370670.2:c.165+1542G>T | ENSP00000359704.2:n.165+1542G>T | |
| ENST00000370671.7:c.225+1542G>T | ENSP00000359705.3:n.225+1542G>T | |
| ENST00000370673.7:c.207+1542G>T | ENSP00000359707.3:n.207+1542G>T | |
| ENST00000394834.7:c.165+1542G>T | ENSP00000378311.3:n.165+1542G>T | |
| ENST00000454967.1:c.69+1542G>T | ENSP00000391978.1:n.69+1542G>T | |
| NM_001010971.2:c.207+1542G>T | NP_001010971.1:n.207+1542G>T | |
| NM_001134663.1:c.165+1542G>T | NP_001128135.1:n.165+1542G>T | |
| NM_001134664.1:c.165+1542G>T | NP_001128136.1:n.165+1542G>T | |
| XM_011540758.1:c.183+1542G>T | XP_011539060.1:n.183+1542G>T | |
| XM_011540759.1:c.108+1542G>T | XP_011539061.1:n.108+1542G>T | |
| XM_011540760.1:c.108+1542G>T | XP_011539062.1:n.108+1542G>T | |
| XM_011540761.1:c.108+1542G>T | XP_011539063.1:n.108+1542G>T | |
| XM_017000377.2:c.225+1542G>T | XP_016855866.1:n.225+1542G>T | |
| NM_001010971.3:c.207+1542G>T | NP_001010971.1:n.207+1542G>T | |
| NM_001134663.2:c.165+1542G>T MANE Select | NP_001128135.1:n.165+1542G>T | |
| NM_001134664.2:c.165+1542G>T | NP_001128136.1:n.165+1542G>T |