gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121854771C>T , CM000666.2:g.121854771C>T | GRCh38 |
| NC_000004.11:g.122775926C>T , CM000666.1:g.122775926C>T | GRCh37 |
| NC_000004.10:g.122995376C>T | NCBI36 |
| NG_009111.1:g.20717G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264499.9:c.651G>A MANE Select | ENSP00000264499.4:p.Ala217= | |
| ENST00000264499.8:c.651G>A | ENSP00000264499.4:p.Ala217= | |
| ENST00000506636.1:c.651G>A | ENSP00000423626.1:p.Ala217= | |
| NM_018190.3:c.651G>A | NP_060660.2:p.Ala217= | |
| NM_176824.2:c.651G>A | NP_789794.1:p.Ala217= | |
| XM_005263106.2:c.654G>A | XP_005263163.1:p.Ala218= | |
| XM_011532079.1:c.699G>A | XP_011530381.1:p.Ala233= | |
| XM_011532080.1:c.696G>A | XP_011530382.1:p.Ala232= | |
| XM_011532081.1:c.699G>A | XP_011530383.1:p.Ala233= | |
| XM_005263106.4:c.654G>A | XP_005263163.1:p.Ala218= | |
| XM_011532079.3:c.699G>A | XP_011530381.1:p.Ala233= | |
| XM_011532080.3:c.696G>A | XP_011530382.1:p.Ala232= | |
| XM_011532081.3:c.699G>A | XP_011530383.1:p.Ala233= | |
| XM_017008357.2:c.651G>A | XP_016863846.1:p.Ala217= | |
| XM_017008358.2:c.654G>A | XP_016863847.1:p.Ala218= | |
| NM_176824.3:c.651G>A MANE Select | NP_789794.1:p.Ala217= | |
| NM_018190.4:c.651G>A | NP_060660.2:p.Ala217= |