Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30242968C>A , CM000685.2:g.30242968C>A | GRCh38 |
| NC_000023.10:g.30261085C>A , CM000685.1:g.30261085C>A | GRCh37 |
| NC_000023.9:g.30171006C>A | NCBI36 |
| NG_015870.1:g.6029C>A | |
| NG_016336.1:g.4238C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002367.4:c.833C>A MANE Select | NP_002358.1:p.Ala278Glu |
| ENST00000378982.4:c.833C>A MANE Select | ENSP00000368266.2:p.Ala278Glu |
| NM_002367.3:c.833C>A | NP_002358.1:p.Ala278Glu |
| ENST00000378982.3:c.833C>A | ENSP00000368266.2:p.Ala278Glu |