gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422715C>A , CM000681.2:g.41422715C>A | GRCh38 |
| NC_000019.9:g.41928620C>A , CM000681.1:g.41928620C>A | GRCh37 |
| NC_000019.8:g.46620460C>A | NCBI36 |
| NG_013004.1:g.29927C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.940C>A MANE Select | ENSP00000269980.2:p.Arg314= | |
| ENST00000269980.6:c.940C>A | ENSP00000269980.2:p.Arg314= | |
| ENST00000457836.6:c.874C>A | ENSP00000416000.2:p.Arg292= | |
| ENST00000535632.5:n.569C>A | ||
| ENST00000540732.3:c.1042C>A | ENSP00000443246.1:p.Arg348= | |
| ENST00000542943.5:c.853C>A | ENSP00000440345.1:p.Arg285= | |
| ENST00000545787.1:n.568C>A | ||
| ENST00000595085.5:c.922+18C>A | ENSP00000471150.2:n.922+18C>A | |
| NM_000709.3:c.940C>A | NP_000700.1:p.Arg314= | |
| NM_001164783.1:c.937C>A | NP_001158255.1:p.Arg313= | |
| NM_000709.4:c.940C>A MANE Select | NP_000700.1:p.Arg314= | |
| NM_001164783.2:c.937C>A | NP_001158255.1:p.Arg313= |