Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49622040C>G , CM000676.2:g.49622040C>G | GRCh38 |
| NC_000014.8:g.50088758C>G , CM000676.1:g.50088758C>G | GRCh37 |
| NC_000014.7:g.49158508C>G | NCBI36 |
| NG_008920.1:g.6270C>G | |
| NG_033054.1:g.3592G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.772C>G MANE Select | ENSP00000307423.2:p.Leu258Val | |
| ENST00000305386.3:c.772C>G | ENSP00000307423.2:p.Leu258Val | |
| NM_002408.3:c.772C>G | NP_002399.1:p.Leu258Val | |
| NM_002408.4:c.772C>G MANE Select | NP_002399.1:p.Leu258Val |