gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424468A>T , CM000681.2:g.41424468A>T | GRCh38 |
| NC_000019.9:g.41930373A>T , CM000681.1:g.41930373A>T | GRCh37 |
| NC_000019.8:g.46622213A>T | NCBI36 |
| NG_013004.1:g.31680A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1198A>T MANE Select | ENSP00000269980.2:p.Lys400Ter | |
| ENST00000269980.6:c.1198A>T | ENSP00000269980.2:p.Lys400Ter | |
| ENST00000457836.6:c.1207A>T | ENSP00000416000.2:p.Lys403Ter | |
| ENST00000540732.3:c.1300A>T | ENSP00000443246.1:p.Lys434Ter | |
| ENST00000544905.1:c.62-34A>T | ||
| ENST00000595085.5:c.922+1771A>T | ENSP00000471150.2:n.922+1771A>T | |
| NM_000709.3:c.1198A>T | NP_000700.1:p.Lys400Ter | |
| NM_001164783.1:c.1195A>T | NP_001158255.1:p.Lys399Ter | |
| NM_000709.4:c.1198A>T MANE Select | NP_000700.1:p.Lys400Ter | |
| NM_001164783.2:c.1195A>T | NP_001158255.1:p.Lys399Ter |