Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.176792172T>A , CM000666.2:g.176792172T>A | GRCh38 |
| NC_000004.11:g.177713326T>A , CM000666.1:g.177713326T>A | GRCh37 |
| NC_000004.10:g.177950320T>A | NCBI36 |
| NG_034216.1:g.5574A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618562.2:c.140A>T MANE Select | ENSP00000480043.1:p.Glu47Val | |
| ENST00000618562.1:c.140A>T | ENSP00000480043.1:p.Glu47Val | |
| NM_005429.4:c.140A>T | NP_005420.1:p.Glu47Val | |
| NM_005429.5:c.140A>T MANE Select | NP_005420.1:p.Glu47Val |