gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14207106C>A , CM000679.2:g.14207106C>A | GRCh38 |
| NC_000017.10:g.14110423C>A , CM000679.1:g.14110423C>A | GRCh37 |
| NC_000017.9:g.14051148C>A | NCBI36 |
| NG_008034.1:g.142705C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.1225C>A MANE Select | ENSP00000261643.3:p.Arg409= | |
| ENST00000664217.1:c.1225C>A | ENSP00000499396.1:p.Arg409= | |
| ENST00000670279.1:c.929-2403C>A | ENSP00000499450.1:n.929-2403C>A | |
| ENST00000261643.7:c.1225C>A | ENSP00000261643.3:p.Arg409= | |
| ENST00000580561.1:c.*714C>A | ENSP00000462190.1:n.*714C>A | |
| ENST00000581931.5:c.*593C>A | ENSP00000462512.1:n.*593C>A | |
| NM_001303.3:c.1225C>A | NP_001294.2:p.Arg409= | |
| XM_011523658.1:c.649C>A | XP_011521960.1:p.Arg217= | |
| XR_933974.1:n.1032-2403C>A | ||
| NM_001303.4:c.1225C>A MANE Select | NP_001294.2:p.Arg409= |