Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115492C>G , CM000681.2:g.10115492C>G | GRCh38 |
| NC_000019.9:g.10226168C>G , CM000681.1:g.10226168C>G | GRCh37 |
| NC_000019.8:g.10087168C>G | NCBI36 |
| NG_047007.1:g.8972C>G | |
| NG_051197.1:g.9433G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.934G>C MANE Select | ENSP00000253108.3:p.Val312Leu | |
| ENST00000253108.8:c.934G>C | ENSP00000253108.3:p.Val312Leu | |
| ENST00000590158.1:n.953G>C | ||
| ENST00000593054.5:c.328G>C | ENSP00000467187.1:p.Val110Leu | |
| NM_003755.3:c.934G>C | NP_003746.2:p.Val312Leu | |
| NM_003755.4:c.934G>C | NP_003746.2:p.Val312Leu | |
| NM_003755.5:c.934G>C MANE Select | NP_003746.2:p.Val312Leu |