Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73593804C>A , CM000676.2:g.73593804C>A | GRCh38 |
| NC_000014.8:g.74060508C>A , CM000676.1:g.74060508C>A | GRCh37 |
| NC_000014.7:g.73130261C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326303.5:c.560C>A MANE Select | ENSP00000323071.4:p.Ala187Asp | |
| ENST00000326303.4:c.560C>A | ENSP00000323071.4:p.Ala187Asp | |
| NM_152331.3:c.560C>A | NP_689544.3:p.Ala187Asp | |
| XR_001750151.2:n.583C>A | ||
| NM_152331.4:c.560C>A MANE Select | NP_689544.3:p.Ala187Asp |