Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753122C>T , CM000673.2:g.64753122C>T | GRCh38 |
| NC_000011.9:g.64520594C>T , CM000673.1:g.64520594C>T | GRCh37 |
| NC_000011.8:g.64277170C>T | NCBI36 |
| NG_013018.1:g.12594G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005609.4:c.1469G>A MANE Select | NP_005600.1:p.Arg490Gln |
| ENST00000164139.4:c.1469G>A MANE Select | ENSP00000164139.3:p.Arg490Gln |
| NM_001164716.1:c.1205G>A | NP_001158188.1:p.Arg402Gln |
| NM_005609.2:c.1469G>A | NP_005600.1:p.Arg490Gln |
| NM_005609.3:c.1469G>A | NP_005600.1:p.Arg490Gln |
| ENST00000164139.3:c.1469G>A | ENSP00000164139.3:p.Arg490Gln |
| ENST00000377432.7:c.1205G>A | ENSP00000366650.3:p.Arg402Gln |