Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320793C>A , CM000666.2:g.119320793C>A | GRCh38 |
| NC_000004.11:g.120241948C>A , CM000666.1:g.120241948C>A | GRCh37 |
| NC_000004.10:g.120461396C>A | NCBI36 |
| NG_011444.1:g.6369G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.117G>T MANE Select | ENSP00000274024.3:p.Leu39= | |
| ENST00000274024.3:c.117G>T | ENSP00000274024.3:p.Leu39= | |
| NM_000134.3:c.117G>T | NP_000125.2:p.Leu39= | |
| NM_000134.4:c.117G>T MANE Select | NP_000125.2:p.Leu39= |