gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002867 (SAS)
Exomes Max Group AF
0.00002197 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107919232G>A , CM000669.2:g.107919232G>A | GRCh38 |
| NC_000007.13:g.107559677G>A , CM000669.1:g.107559677G>A | GRCh37 |
| NC_000007.12:g.107346913G>A | NCBI36 |
| NG_008045.1:g.33092G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.1503G>A MANE Select | ENSP00000205402.3:p.Ala501= | |
| ENST00000205402.9:c.1503G>A | ENSP00000205402.3:p.Ala501= | |
| ENST00000415325.5:c.*1177G>A | ENSP00000402593.1:n.*1177G>A | |
| ENST00000417551.5:c.1503G>A | ENSP00000390667.1:p.Ala501= | |
| ENST00000437604.6:c.1359G>A | ENSP00000387542.2:p.Ala453= | |
| ENST00000440410.5:c.1434G>A | ENSP00000417016.1:p.Ala478= | |
| NM_000108.4:c.1503G>A | NP_000099.2:p.Ala501= | |
| NM_001289750.1:c.1206G>A | NP_001276679.1:p.Ala402= | |
| NM_001289751.1:c.1434G>A | NP_001276680.1:p.Ala478= | |
| NM_001289752.1:c.1359G>A | NP_001276681.1:p.Ala453= | |
| NM_000108.5:c.1503G>A MANE Select | NP_000099.2:p.Ala501= |