Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095558C>G , CM000669.2:g.27095558C>G | GRCh38 |
| NC_000007.13:g.27135177C>G , CM000669.1:g.27135177C>G | GRCh37 |
| NC_000007.12:g.27101702C>G | NCBI36 |
| NG_011813.1:g.5449G>C | |
| NG_033087.1:g.4465C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.355G>C MANE Select | ENSP00000494260.2:p.Val119Leu | |
| ENST00000343060.4:c.355G>C | ENSP00000343246.4:p.Val119Leu | |
| ENST00000355633.5:c.354+1G>C | ENSP00000347851.5:n.354+1G>C | |
| NM_005522.4:c.355G>C | NP_005513.1:p.Val119Leu | |
| NM_153620.2:c.354+1G>C | NP_705873.2:n.354+1G>C | |
| NM_005522.5:c.355G>C MANE Select | NP_005513.2:p.Val119Leu | |
| NM_153620.3:c.354+1G>C | NP_705873.3:n.354+1G>C |