Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713490C>A , CM000681.2:g.6713490C>A | GRCh38 |
| NC_000019.9:g.6713501C>A , CM000681.1:g.6713501C>A | GRCh37 |
| NC_000019.8:g.6664501C>A | NCBI36 |
| NG_009557.1:g.12162G>T , LRG_27:g.12162G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.670G>T | ENSP00000512083.1:p.Val224Leu | |
| ENST00000695692.1:n.117G>T | ||
| ENST00000245907.11:c.793G>T MANE Select | ENSP00000245907.4:p.Val265Leu | |
| ENST00000245907.10:c.793G>T | ENSP00000245907.4:p.Val265Leu | |
| ENST00000595577.1:n.297G>T | ||
| ENST00000597442.5:n.43G>T | ||
| NM_000064.3:c.793G>T | NP_000055.2:p.Val265Leu | |
| NM_000064.4:c.793G>T MANE Select | NP_000055.2:p.Val265Leu |