Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320691T>A , CM000666.2:g.119320691T>A | GRCh38 |
| NC_000004.11:g.120241846T>A , CM000666.1:g.120241846T>A | GRCh37 |
| NC_000004.10:g.120461294T>A | NCBI36 |
| NG_011444.1:g.6471A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.219A>T MANE Select | ENSP00000274024.3:p.Leu73= | |
| ENST00000274024.3:c.219A>T | ENSP00000274024.3:p.Leu73= | |
| NM_000134.3:c.219A>T | NP_000125.2:p.Leu73= | |
| NM_000134.4:c.219A>T MANE Select | NP_000125.2:p.Leu73= |