gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004345 (EAS)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00004907 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424572C>T , CM000681.2:g.41424572C>T | GRCh38 |
| NC_000019.9:g.41930477C>T , CM000681.1:g.41930477C>T | GRCh37 |
| NC_000019.8:g.46622317C>T | NCBI36 |
| NG_013004.1:g.31784C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1302C>T MANE Select | ENSP00000269980.2:p.Tyr434= | |
| ENST00000269980.6:c.1302C>T | ENSP00000269980.2:p.Tyr434= | |
| ENST00000457836.6:c.1311C>T | ENSP00000416000.2:p.Tyr437= | |
| ENST00000540732.3:c.1404C>T | ENSP00000443246.1:p.Tyr468= | |
| ENST00000544905.1:c.132C>T | ||
| ENST00000595085.5:c.922+1875C>T | ENSP00000471150.2:n.922+1875C>T | |
| NM_000709.3:c.1302C>T | NP_000700.1:p.Tyr434= | |
| NM_001164783.1:c.1299C>T | NP_001158255.1:p.Tyr433= | |
| NM_000709.4:c.1302C>T MANE Select | NP_000700.1:p.Tyr434= | |
| NM_001164783.2:c.1299C>T | NP_001158255.1:p.Tyr433= |