gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002256 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.746000G>A , CM000679.2:g.746000G>A | GRCh38 |
| NC_000017.10:g.649240G>A , CM000679.1:g.649240G>A | GRCh37 |
| NC_000017.9:g.595990G>A | NCBI36 |
| NG_046938.1:g.11873C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319004.6:c.2043C>T MANE Select | ENSP00000321706.5:p.Asn681= | |
| ENST00000319004.5:c.2043C>T | ENSP00000321706.5:p.Asn681= | |
| ENST00000576778.1:c.2010C>T | ENSP00000459565.1:p.Asn670= | |
| NM_015721.2:c.2043C>T | NP_056536.2:p.Asn681= | |
| XM_005256667.3:c.2055C>T | XP_005256724.1:p.Asn685= | |
| XM_005256668.3:c.2055C>T | XP_005256725.1:p.Asn685= | |
| XM_005256670.3:c.2010C>T | XP_005256727.1:p.Asn670= | |
| XM_011523910.1:c.2055C>T | XP_011522212.1:p.Asn685= | |
| XM_011523911.1:c.2055C>T | XP_011522213.1:p.Asn685= | |
| XM_011523912.1:c.2010C>T | XP_011522214.1:p.Asn670= | |
| XM_011523913.1:c.2010C>T | XP_011522215.1:p.Asn670= | |
| XM_005256667.4:c.2055C>T | XP_005256724.1:p.Asn685= | |
| XM_005256670.5:c.2010C>T | XP_005256727.1:p.Asn670= | |
| XM_011523910.2:c.2055C>T | XP_011522212.1:p.Asn685= | |
| XM_011523911.2:c.2055C>T | XP_011522213.1:p.Asn685= | |
| XM_011523912.2:c.2010C>T | XP_011522214.1:p.Asn670= | |
| XM_011523913.2:c.2010C>T | XP_011522215.1:p.Asn670= | |
| XM_017024709.1:c.2055C>T | XP_016880198.1:p.Asn685= | |
| NM_015721.3:c.2043C>T MANE Select | NP_056536.2:p.Asn681= |