Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882119C>A , CM000663.2:g.160882119C>A | GRCh38 |
| NC_000001.10:g.160851909C>A , CM000663.1:g.160851909C>A | GRCh37 |
| NC_000001.9:g.159118533C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.243G>T MANE Select | ENSP00000323587.3:p.Leu81= | |
| ENST00000326245.3:c.243G>T | ENSP00000323587.3:p.Leu81= | |
| ENST00000464077.1:n.177G>T | ||
| NM_017625.2:c.243G>T | NP_060095.2:p.Leu81= | |
| NM_017625.3:c.243G>T MANE Select | NP_060095.2:p.Leu81= |