gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22698526 (SAS)
Genomes Max Group AF
0.22698526 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.109091966G>A , CM000671.2:g.109091966G>A | GRCh38 |
| NC_000009.11:g.111854246G>A , CM000671.1:g.111854246G>A | GRCh37 |
| NC_000009.10:g.110894067G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413712.7:c.917-811C>T | ENSP00000394798.3:n.917-811C>T | |
| ENST00000374586.8:c.917-811C>T MANE Select | ENSP00000363714.3:n.917-811C>T | |
| ENST00000374586.7:c.917-811C>T | ENSP00000363714.3:n.917-811C>T | |
| ENST00000491854.1:c.167-811C>T | ENSP00000417842.1:n.167-811C>T | |
| NM_032012.3:c.917-811C>T | NP_114401.2:n.917-811C>T | |
| XM_011518446.1:c.917-814C>T | XP_011516748.1:n.917-814C>T | |
| XM_011518447.1:c.917-811C>T | XP_011516749.1:n.917-811C>T | |
| XM_011518448.1:c.917-811C>T | XP_011516750.1:n.917-811C>T | |
| XM_011518449.1:c.800-811C>T | XP_011516751.1:n.800-811C>T | |
| XM_011518450.1:c.800-814C>T | XP_011516752.1:n.800-814C>T | |
| XM_011518451.1:c.917-811C>T | XP_011516753.1:n.917-811C>T | |
| XM_011518452.1:c.916+1509C>T | XP_011516754.1:n.916+1509C>T | |
| XM_011518446.2:c.917-814C>T | XP_011516748.1:n.917-814C>T | |
| XM_011518449.2:c.800-811C>T | XP_011516751.1:n.800-811C>T | |
| XM_011518452.2:c.916+1509C>T | XP_011516754.1:n.916+1509C>T | |
| XM_017014571.1:c.917-814C>T | XP_016870060.1:n.917-814C>T | |
| XM_017014572.1:c.916+1509C>T | XP_016870061.1:n.916+1509C>T | |
| NM_032012.4:c.917-811C>T MANE Select | NP_114401.2:n.917-811C>T |