Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154445714G>C , CM000685.2:g.154445714G>C | GRCh38 |
| NC_000023.10:g.153674062G>C , CM000685.1:g.153674062G>C | GRCh37 |
| NC_000023.9:g.153327256G>C | NCBI36 |
| NG_013233.1:g.6578G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004699.4:c.193G>C MANE Select | NP_004690.1:p.Val65Leu |
| ENST00000393600.8:c.193G>C MANE Select | ENSP00000377225.3:p.Val65Leu |
| NM_004699.3:c.193G>C | NP_004690.1:p.Val65Leu |
| ENST00000158526.9:c.73G>C | ENSP00000158526.9:p.Val25Leu |
| ENST00000393600.7:c.193G>C | ENSP00000377225.3:p.Val65Leu |
| ENST00000464419.5:n.274G>C | |
| ENST00000481619.5:n.181G>C | |
| ENST00000490480.1:n.272G>C |