gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00104737 (EAS)
Genomes Max Group AF
0.00133551 (EAS)
Exomes Max Group AF
0.00090433 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52406837G>A , CM000665.2:g.52406837G>A | GRCh38 |
| NC_000003.11:g.52440853G>A , CM000665.1:g.52440853G>A | GRCh37 |
| NC_000003.10:g.52415893G>A | NCBI36 |
| NG_031859.1:g.8157C>T , LRG_529:g.8157C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.651C>T MANE Select | ENSP00000417132.1:p.Ala217= | |
| ENST00000296288.9:c.651C>T | ENSP00000296288.5:p.Ala217= | |
| ENST00000460680.5:c.651C>T | ENSP00000417132.1:p.Ala217= | |
| ENST00000471532.5:n.366C>T | ||
| ENST00000483984.5:n.508C>T | ||
| NM_004656.3:c.651C>T | NP_004647.1:p.Ala217= | |
| XM_011534149.1:c.651C>T | XP_011532451.1:p.Ala217= | |
| XM_011534150.1:c.651C>T | XP_011532452.1:p.Ala217= | |
| XM_011534151.1:c.651C>T | XP_011532453.1:p.Ala217= | |
| XM_011534152.1:c.651C>T | XP_011532454.1:p.Ala217= | |
| XM_011534149.3:c.651C>T | XP_011532451.1:p.Ala217= | |
| XM_011534150.3:c.651C>T | XP_011532452.1:p.Ala217= | |
| XM_011534151.3:c.651C>T | XP_011532453.1:p.Ala217= | |
| XM_011534152.2:c.651C>T | XP_011532454.1:p.Ala217= | |
| XM_017007303.2:c.651C>T | XP_016862792.1:p.Ala217= | |
| NM_004656.4:c.651C>T MANE Select | NP_004647.1:p.Ala217= |