Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675834G>C , CM000685.2:g.38675834G>C | GRCh38 |
| NC_000023.10:g.38535088G>C , CM000685.1:g.38535088G>C | GRCh37 |
| NC_000023.9:g.38420032G>C | NCBI36 |
| NG_009160.1:g.119358G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.571G>C MANE Select | ENSP00000367743.2:p.Val191Leu | |
| ENST00000286824.6:c.622G>C | ENSP00000286824.6:p.Val208Leu | |
| ENST00000378482.6:c.571G>C | ENSP00000367743.2:p.Val191Leu | |
| ENST00000419600.3:n.515G>C | ||
| ENST00000465127.1:c.661G>C | ENSP00000417050.1:p.Val221Leu | |
| ENST00000471410.5:c.*597G>C | ENSP00000419290.1:n.*597G>C | |
| ENST00000475216.5:c.*564G>C | ENSP00000418586.1:n.*564G>C | |
| NM_004615.3:c.571G>C | NP_004606.2:p.Val191Leu | |
| NM_004615.4:c.571G>C MANE Select | NP_004606.2:p.Val191Leu |