Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755735C>A , CM000679.2:g.43755735C>A | GRCh38 |
| NC_000017.10:g.41833103C>A , CM000679.1:g.41833103C>A | GRCh37 |
| NC_000017.9:g.39188629C>A | NCBI36 |
| NG_008078.2:g.8054G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.249G>T MANE Select | ENSP00000301691.1:p.Leu83= | |
| ENST00000301691.2:c.249G>T | ENSP00000301691.1:p.Leu83= | |
| NM_025237.2:c.249G>T | NP_079513.1:p.Leu83= | |
| NM_025237.3:c.249G>T MANE Select | NP_079513.1:p.Leu83= |