Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58576713C>T , CM000663.2:g.58576713C>T | GRCh38 |
| NC_000001.10:g.59042385C>T , CM000663.1:g.59042385C>T | GRCh37 |
| NC_000001.9:g.58814973C>T | NCBI36 |
| NG_016237.1:g.5782G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.444G>A MANE Select | ENSP00000360269.2:p.Leu148= | |
| ENST00000371225.3:c.444G>A | ENSP00000360269.2:p.Leu148= | |
| NM_002353.2:c.444G>A | NP_002344.2:p.Leu148= | |
| NM_002353.3:c.444G>A MANE Select | NP_002344.2:p.Leu148= |