Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719331G>A , CM000667.2:g.71719331G>A | GRCh38 |
| NC_000005.9:g.71015158G>A , CM000667.1:g.71015158G>A | GRCh37 |
| NC_000005.8:g.71050914G>A | NCBI36 |
| NG_015988.1:g.5169G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.38G>A MANE Select | ENSP00000296777.4:p.Gly13Asp | |
| ENST00000296777.4:c.38G>A | ENSP00000296777.4:p.Gly13Asp | |
| NM_004291.3:c.38G>A | NP_004282.1:p.Gly13Asp | |
| NM_004291.4:c.38G>A MANE Select | NP_004282.1:p.Gly13Asp |