Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019472C>G , CM000674.2:g.6019472C>G | GRCh38 |
| NC_000012.11:g.6128638C>G , CM000674.1:g.6128638C>G | GRCh37 |
| NC_000012.10:g.5998899C>G | NCBI36 |
| NG_009072.1:g.110199G>C | |
| NG_009072.2:g.110199G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.3946G>C MANE Select | NP_000543.3:p.Val1316Leu |
| ENST00000261405.10:c.3946G>C MANE Select | ENSP00000261405.5:p.Val1316Leu |
| NM_000552.3:c.3946G>C | NP_000543.2:p.Val1316Leu |
| NM_000552.4:c.3946G>C | NP_000543.2:p.Val1316Leu |
| ENST00000261405.9:c.3946G>C | ENSP00000261405.5:p.Val1316Leu |
| ENST00000538635.5:n.421-25538G>C |