Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153374460T>C , CM000663.2:g.153374460T>C | GRCh38 |
| NC_000001.10:g.153346936T>C , CM000663.1:g.153346936T>C | GRCh37 |
| NC_000001.9:g.151613560T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005621.2:c.133A>G MANE Select | NP_005612.1:p.Ile45Val |
| ENST00000368737.5:c.133A>G MANE Select | ENSP00000357726.3:p.Ile45Val |
| NM_005621.1:c.133A>G | NP_005612.1:p.Ile45Val |
| ENST00000368737.4:c.133A>G | ENSP00000357726.3:p.Ile45Val |