gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002863 (SAS)
Exomes Max Group AF
0.00002995 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49483384G>T , CM000672.2:g.49483384G>T | GRCh38 |
| NC_000010.10:g.50691430G>T , CM000672.1:g.50691430G>T | GRCh37 |
| NC_000010.9:g.50361436G>T | NCBI36 |
| NG_009442.1:g.60718C>A , LRG_465:g.60718C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1954C>A MANE Select | ENSP00000348089.5:p.Arg652= | |
| ENST00000681632.1:n.2032C>A | ||
| ENST00000681659.1:c.1795C>A | ENSP00000505631.1:p.Arg599= | |
| ENST00000355832.9:c.1954C>A | ENSP00000348089.5:p.Arg652= | |
| ENST00000475116.1:n.408C>A | ||
| ENST00000623073.3:c.*346C>A | ENSP00000485650.1:n.*346C>A | |
| ENST00000623115.3:c.64C>A | ENSP00000485321.1:p.Arg22= | |
| NM_000124.3:c.1954C>A | NP_000115.1:p.Arg652= | |
| NM_001346440.1:c.1954C>A | NP_001333369.1:p.Arg652= | |
| NM_000124.4:c.1954C>A MANE Select | NP_000115.1:p.Arg652= | |
| NM_001346440.2:c.1954C>A | NP_001333369.1:p.Arg652= |