Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709803C>A , CM000681.2:g.6709803C>A | GRCh38 |
| NC_000019.9:g.6709814C>A , CM000681.1:g.6709814C>A | GRCh37 |
| NC_000019.8:g.6660814C>A | NCBI36 |
| NG_009557.1:g.15849G>T , LRG_27:g.15849G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1603G>T | ENSP00000512083.1:p.Val535Leu | |
| ENST00000695654.1:c.850G>T | ENSP00000512085.1:p.Val284Leu | |
| ENST00000695655.1:c.667G>T | ENSP00000512086.1:n.667G>T | |
| ENST00000695692.1:n.1090G>T | ||
| ENST00000245907.11:c.1726G>T MANE Select | ENSP00000245907.4:p.Val576Leu | |
| ENST00000245907.10:c.1726G>T | ENSP00000245907.4:p.Val576Leu | |
| ENST00000600763.1:n.359G>T | ||
| NM_000064.3:c.1726G>T | NP_000055.2:p.Val576Leu | |
| NM_000064.4:c.1726G>T MANE Select | NP_000055.2:p.Val576Leu |