Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96293085C>A , CM000664.2:g.96293085C>A | GRCh38 |
| NC_000002.11:g.96958823C>A , CM000664.1:g.96958823C>A | GRCh37 |
| NC_000002.10:g.96322550C>A | NCBI36 |
| NG_016973.1:g.17475G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.2047G>T MANE Select | ENSP00000317123.5:p.Val683Leu | |
| ENST00000652267.1:c.2047G>T | ENSP00000498933.1:p.Val683Leu | |
| ENST00000323853.9:c.2047G>T | ENSP00000317123.5:p.Val683Leu | |
| NM_014014.4:c.2047G>T | NP_054733.2:p.Val683Leu | |
| NM_014014.5:c.2047G>T MANE Select | NP_054733.2:p.Val683Leu |