gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001427 (SAS)
Exomes Max Group AF
0.00001584 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22257753G>A , CM000673.2:g.22257753G>A | GRCh38 |
| NC_000011.9:g.22279299G>A , CM000673.1:g.22279299G>A | GRCh37 |
| NC_000011.8:g.22235875G>A | NCBI36 |
| NG_015844.1:g.69578G>A , LRG_868:g.69578G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.956G>A | ENSP00000507766.1:p.Trp319Ter | |
| ENST00000682341.1:c.1364G>A | ENSP00000508251.1:p.Trp455Ter | |
| ENST00000683197.1:c.1364G>A | ENSP00000507641.1:p.Trp455Ter | |
| ENST00000683411.1:c.956G>A | ENSP00000508397.1:p.Trp319Ter | |
| ENST00000683437.1:c.956G>A | ENSP00000508408.1:p.Trp319Ter | |
| ENST00000683613.1:n.2400G>A | ||
| ENST00000684663.1:c.1361G>A | ENSP00000508009.1:p.Trp454Ter | |
| ENST00000324559.9:c.1406G>A MANE Select | ENSP00000315371.9:p.Trp469Ter | |
| ENST00000648804.1:n.1741G>A | ||
| ENST00000324559.8:c.1406G>A | ENSP00000315371.8:p.Trp469Ter | |
| NM_001142649.1:c.1403G>A | NP_001136121.1:p.Trp468Ter | |
| NM_213599.2:c.1406G>A , LRG_868t1:c.1406G>A | NP_998764.1:p.Trp469Ter | |
| XM_005252820.2:c.1364G>A | XP_005252877.2:p.Trp455Ter | |
| XM_005252821.2:c.1361G>A | XP_005252878.2:p.Trp454Ter | |
| XM_005252822.3:c.1328G>A | XP_005252879.1:p.Trp443Ter | |
| XM_005252823.3:c.1325G>A | XP_005252880.1:p.Trp442Ter | |
| XM_011519949.1:c.1313G>A | XP_011518251.1:p.Trp438Ter | |
| XM_005252820.3:c.1364G>A | XP_005252877.2:p.Trp455Ter | |
| XM_005252821.3:c.1361G>A | XP_005252878.2:p.Trp454Ter | |
| XM_005252822.4:c.1328G>A | XP_005252879.1:p.Trp443Ter | |
| XM_011519949.2:c.1313G>A | XP_011518251.1:p.Trp438Ter | |
| NM_001142649.2:c.1403G>A | NP_001136121.1:p.Trp468Ter | |
| NM_213599.3:c.1406G>A MANE Select | NP_998764.1:p.Trp469Ter |