Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713230C>T , CM000681.2:g.6713230C>T | GRCh38 |
| NC_000019.9:g.6713241C>T , CM000681.1:g.6713241C>T | GRCh37 |
| NC_000019.8:g.6664241C>T | NCBI36 |
| NG_009557.1:g.12422G>A , LRG_27:g.12422G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.839G>A | ENSP00000512083.1:p.Gly280Glu | |
| ENST00000695654.1:c.86G>A | ENSP00000512085.1:p.Gly29Glu | |
| ENST00000695692.1:n.286G>A | ||
| ENST00000245907.11:c.962G>A MANE Select | ENSP00000245907.4:p.Gly321Glu | |
| ENST00000245907.10:c.962G>A | ENSP00000245907.4:p.Gly321Glu | |
| ENST00000594270.5:n.86G>A | ||
| ENST00000595577.1:n.466G>A | ||
| ENST00000597442.5:n.212G>A | ||
| NM_000064.3:c.962G>A | NP_000055.2:p.Gly321Glu | |
| NM_000064.4:c.962G>A MANE Select | NP_000055.2:p.Gly321Glu |