Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123691G>A , CM000679.2:g.72123691G>A | GRCh38 |
| NC_000017.10:g.70119832G>A , CM000679.1:g.70119832G>A | GRCh37 |
| NC_000017.9:g.67631427G>A | NCBI36 |
| NG_012490.1:g.7672G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.834G>A MANE Select | ENSP00000245479.2:p.Leu278= | |
| ENST00000245479.2:c.834G>A | ENSP00000245479.2:p.Leu278= | |
| NM_000346.3:c.834G>A | NP_000337.1:p.Leu278= | |
| NM_000346.4:c.834G>A MANE Select | NP_000337.1:p.Leu278= |