Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46411717T>G , CM000681.2:g.46411717T>G | GRCh38 |
| NC_000019.9:g.46914974T>G , CM000681.1:g.46914974T>G | GRCh37 |
| NC_000019.8:g.51606814T>G | NCBI36 |
| NG_031956.1:g.6946A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032040.5:c.1094A>C MANE Select | NP_114429.2:p.Asp365Ala |
| ENST00000307522.5:c.1094A>C MANE Select | ENSP00000303158.3:p.Asp365Ala |
| NM_032040.4:c.1094A>C | NP_114429.2:p.Asp365Ala |
| ENST00000307522.3:c.1094A>C | ENSP00000303158.3:p.Asp365Ala |
| ENST00000697726.1:c.1304A>C | ENSP00000513420.1:p.Asp435Ala |