Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46411632C>T , CM000681.2:g.46411632C>T | GRCh38 |
| NC_000019.9:g.46914889C>T , CM000681.1:g.46914889C>T | GRCh37 |
| NC_000019.8:g.51606729C>T | NCBI36 |
| NG_031956.1:g.7031G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032040.5:c.1179G>A MANE Select | NP_114429.2:p.Ala393= |
| ENST00000307522.5:c.1179G>A MANE Select | ENSP00000303158.3:p.Ala393= |
| NM_032040.4:c.1179G>A | NP_114429.2:p.Ala393= |
| ENST00000307522.3:c.1179G>A | ENSP00000303158.3:p.Ala393= |
| ENST00000697726.1:c.1389G>A | ENSP00000513420.1:p.Ala463= |