Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709814T>C , CM000681.2:g.6709814T>C | GRCh38 |
| NC_000019.9:g.6709825T>C , CM000681.1:g.6709825T>C | GRCh37 |
| NC_000019.8:g.6660825T>C | NCBI36 |
| NG_009557.1:g.15838A>G , LRG_27:g.15838A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1592A>G | ENSP00000512083.1:p.Asp531Gly | |
| ENST00000695654.1:c.839A>G | ENSP00000512085.1:p.Asp280Gly | |
| ENST00000695655.1:c.656A>G | ENSP00000512086.1:n.656A>G | |
| ENST00000695692.1:n.1079A>G | ||
| ENST00000245907.11:c.1715A>G MANE Select | ENSP00000245907.4:p.Asp572Gly | |
| ENST00000245907.10:c.1715A>G | ENSP00000245907.4:p.Asp572Gly | |
| ENST00000600763.1:n.348A>G | ||
| NM_000064.3:c.1715A>G | NP_000055.2:p.Asp572Gly | |
| NM_000064.4:c.1715A>G MANE Select | NP_000055.2:p.Asp572Gly |