Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519884C>A , CM000674.2:g.52519884C>A | GRCh38 |
| NC_000012.11:g.52913668C>A , CM000674.1:g.52913668C>A | GRCh37 |
| NC_000012.10:g.51199935C>A | NCBI36 |
| NG_008297.1:g.5576G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.413G>T MANE Select | NP_000415.2:p.Gly138Val |
| ENST00000252242.9:c.413G>T MANE Select | ENSP00000252242.4:p.Gly138Val |
| NM_000424.3:c.413G>T | NP_000415.2:p.Gly138Val |
| ENST00000252242.8:c.413G>T | ENSP00000252242.4:p.Gly138Val |
| ENST00000549420.1:c.83G>T | ENSP00000447209.1:p.Gly28Val |
| ENST00000551275.1:c.308G>T | ENSP00000448041.1:p.Gly103Val |
| ENST00000552629.5:n.511G>T |