gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010205 (AMR)
Genomes Max Group AF
0.00030728 (AMR)
Exomes Max Group AF
0.00002995 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119297453G>A , CM000673.2:g.119297453G>A | GRCh38 |
| NC_000011.9:g.119168163G>A , CM000673.1:g.119168163G>A | GRCh37 |
| NC_000011.8:g.118673373G>A | NCBI36 |
| NG_016808.1:g.96174G>A , LRG_608:g.96174G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*1675G>A | ENSP00000515005.1:n.*1675G>A | |
| ENST00000264033.6:c.2223G>A MANE Select | ENSP00000264033.3:p.Ala741= | |
| ENST00000637974.1:c.2217G>A | ENSP00000490763.1:p.Ala739= | |
| ENST00000264033.5:c.2223G>A | ENSP00000264033.3:p.Ala741= | |
| ENST00000634586.1:c.2223G>A | ENSP00000489218.1:p.Ala741= | |
| ENST00000634840.1:c.2091G>A | ENSP00000489324.1:p.Ala697= | |
| NM_005188.3:c.2223G>A , LRG_608t1:c.2223G>A | NP_005179.2:p.Ala741= | |
| NM_005188.4:c.2223G>A MANE Select | NP_005179.2:p.Ala741= |