gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007507 (SAS)
Exomes Max Group AF
0.00007123 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13564226G>A , CM000674.2:g.13564226G>A | GRCh38 |
| NC_000012.11:g.13717160G>A , CM000674.1:g.13717160G>A | GRCh37 |
| NC_000012.10:g.13608427G>A | NCBI36 |
| NG_031854.1:g.420863C>T | |
| NG_031854.2:g.422787C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.3012C>T MANE Select | ENSP00000477455.1:p.Tyr1004= | |
| ENST00000637214.1:c.69+44377C>T | ENSP00000489997.1:n.69+44377C>T | |
| ENST00000609686.3:c.3012C>T | ENSP00000477455.1:p.Tyr1004= | |
| ENST00000628166.1:n.1272C>T | ||
| NM_000834.3:c.3012C>T | NP_000825.2:p.Tyr1004= | |
| XM_005253351.2:c.798C>T | XP_005253408.1:p.Tyr266= | |
| XM_011520628.1:c.3012C>T | XP_011518930.1:p.Tyr1004= | |
| XM_011520629.1:c.3012C>T | XP_011518931.1:p.Tyr1004= | |
| XM_011520630.1:c.3012C>T | XP_011518932.1:p.Tyr1004= | |
| NM_000834.4:c.3012C>T | NP_000825.2:p.Tyr1004= | |
| XM_005253351.3:c.798C>T | XP_005253408.1:p.Tyr266= | |
| XM_011520628.2:c.3012C>T | XP_011518930.1:p.Tyr1004= | |
| XM_011520629.2:c.3012C>T | XP_011518931.1:p.Tyr1004= | |
| XM_017019219.2:c.3012C>T | XP_016874708.1:p.Tyr1004= | |
| NM_000834.5:c.3012C>T MANE Select | NP_000825.2:p.Tyr1004= |