Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.50973993C>A , CM000663.2:g.50973993C>A | GRCh38 |
| NC_000001.10:g.51439665C>A , CM000663.1:g.51439665C>A | GRCh37 |
| NC_000001.9:g.51212253C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_078626.3:c.230C>A MANE Select | NP_523240.1:p.Ala77Glu |
| ENST00000371761.4:c.230C>A MANE Select | ENSP00000360826.3:p.Ala77Glu |
| NM_001262.2:c.230C>A | NP_001253.1:p.Ala77Glu |
| NM_001262.3:c.230C>A | NP_001253.1:p.Ala77Glu |
| NM_078626.2:c.230C>A | NP_523240.1:p.Ala77Glu |
| ENST00000262662.5:c.230C>A | ENSP00000262662.1:p.Ala77Glu |
| ENST00000371761.3:c.230C>A | ENSP00000360826.3:p.Ala77Glu |
| ENST00000396148.1:c.230C>A | ENSP00000379452.1:p.Ala77Glu |
| ENST00000396148.2:c.230C>A | ENSP00000379452.1:p.Ala77Glu |