gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151855047G>T , CM000667.2:g.151855047G>T | GRCh38 |
| NC_000005.9:g.151234608G>T , CM000667.1:g.151234608G>T | GRCh37 |
| NC_000005.8:g.151214801G>T | NCBI36 |
| NG_011764.1:g.74790C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.690C>A MANE Select | ENSP00000274576.5:p.Tyr230Ter | |
| ENST00000274576.8:c.690C>A | ENSP00000274576.4:p.Tyr230Ter | |
| ENST00000455880.2:c.690C>A | ENSP00000411593.2:p.Tyr230Ter | |
| ENST00000462581.6:c.*448C>A | ENSP00000430595.1:n.*448C>A | |
| ENST00000471351.2:n.973C>A | ||
| NM_000171.3:c.690C>A | NP_000162.2:p.Tyr230Ter | |
| NM_001146040.1:c.690C>A | NP_001139512.1:p.Tyr230Ter | |
| NM_001292000.1:c.441C>A | NP_001278929.1:p.Tyr147Ter | |
| XM_005268412.2:c.690C>A | XP_005268469.1:p.Tyr230Ter | |
| XR_002956230.1:n.41+1659G>T | ||
| NM_000171.4:c.690C>A MANE Select | NP_000162.2:p.Tyr230Ter | |
| NM_001146040.2:c.690C>A | NP_001139512.1:p.Tyr230Ter | |
| NM_001292000.2:c.441C>A | NP_001278929.1:p.Tyr147Ter |