Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55368743C= , CM000673.2:g.55368743C= | GRCh38 |
| NC_000011.9:g.55136219C= , CM000673.1:g.55136219C= | GRCh37 |
| NC_000011.8:g.54892795C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001005275.2:c.770C= MANE Select | NP_001005275.2:p.Ala257= |
| ENST00000641526.1:c.770C= MANE Select | ENSP00000493060.1:p.Ala257= |
| NM_001005275.1:c.860C= | NP_001005275.1:p.Ala287= |
| ENST00000314706.3:c.860C= | ENSP00000325065.3:p.Ala287= |