Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62406968C>T , CM000682.2:g.62406968C>T | GRCh38 |
| NC_000020.10:g.60982024C>T , CM000682.1:g.60982024C>T | GRCh37 |
| NC_000020.9:g.60415419C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031215.3:c.309G>A MANE Select | NP_112492.2:p.Leu103= |
| ENST00000279101.10:c.309G>A MANE Select | ENSP00000279101.5:p.Leu103= |
| NM_031215.2:c.309G>A | NP_112492.2:p.Leu103= |
| ENST00000279101.9:c.309G>A | ENSP00000279101.5:p.Leu103= |