Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55368743C>A , CM000673.2:g.55368743C>A | GRCh38 |
| NC_000011.9:g.55136219C>A , CM000673.1:g.55136219C>A | GRCh37 |
| NC_000011.8:g.54892795C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001005275.2:c.770C>A MANE Select | NP_001005275.2:p.Ala257Glu |
| ENST00000641526.1:c.770C>A MANE Select | ENSP00000493060.1:p.Ala257Glu |
| NM_001005275.1:c.860C>A | NP_001005275.1:p.Ala287Glu |
| ENST00000314706.3:c.860C>A | ENSP00000325065.3:p.Ala287Glu |