Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4863117G>T , CM000666.2:g.4863117G>T | GRCh38 |
| NC_000004.11:g.4864844G>T , CM000666.1:g.4864844G>T | GRCh37 |
| NC_000004.10:g.4915745G>T | NCBI36 |
| NG_008121.1:g.8453G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.886G>T MANE Select | ENSP00000372170.4:p.Gly296Cys | |
| ENST00000382723.4:c.886G>T | ENSP00000372170.4:p.Gly296Cys | |
| NM_002448.3:c.886G>T MANE Select | NP_002439.2:p.Gly296Cys |