Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882167G>A , CM000663.2:g.160882167G>A | GRCh38 |
| NC_000001.10:g.160851957G>A , CM000663.1:g.160851957G>A | GRCh37 |
| NC_000001.9:g.159118581G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326245.4:c.195C>T MANE Select | ENSP00000323587.3:p.Ile65= | |
| ENST00000326245.3:c.195C>T | ENSP00000323587.3:p.Ile65= | |
| ENST00000464077.1:n.129C>T | ||
| NM_017625.2:c.195C>T | NP_060095.2:p.Ile65= | |
| NM_017625.3:c.195C>T MANE Select | NP_060095.2:p.Ile65= |