Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61933124G>A , CM000682.2:g.61933124G>A | GRCh38 |
| NC_000020.10:g.60508182G>A , CM000682.1:g.60508182G>A | GRCh37 |
| NC_000020.9:g.59941577G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001794.5:c.2379G>A MANE Select | NP_001785.2:p.Gln793= |
| ENST00000614565.5:c.2379G>A MANE Select | ENSP00000484928.1:p.Gln793= |
| NM_001252338.2:c.2268G>A | NP_001239267.1:p.Gln756= |
| NM_001252339.2:c.2157G>A | NP_001239268.1:p.Gln719= |
| NM_001252339.3:c.2157G>A | NP_001239268.1:p.Gln719= |
| NM_001794.4:c.2379G>A | NP_001785.2:p.Gln793= |
| ENST00000543233.2:c.2157G>A | ENSP00000443301.1:p.Gln719= |
| ENST00000611855.4:c.2097G>A | ENSP00000480844.1:p.Gln699= |
| ENST00000614565.4:c.2379G>A | ENSP00000484928.1:p.Gln793= |