Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46123854C>T , CM000666.2:g.46123854C>T | GRCh38 |
| NC_000004.11:g.46125871C>T , CM000666.1:g.46125871C>T | GRCh37 |
| NC_000004.10:g.45820628C>T | NCBI36 |
| NG_046964.1:g.5212G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295452.5:c.60G>A MANE Select | ENSP00000295452.4:p.Gly20= | |
| ENST00000295452.4:c.60G>A | ENSP00000295452.4:p.Gly20= | |
| NM_173536.3:c.60G>A | NP_775807.2:p.Gly20= | |
| NM_173536.4:c.60G>A MANE Select | NP_775807.2:p.Gly20= |