Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709817T>C , CM000681.2:g.6709817T>C | GRCh38 |
| NC_000019.9:g.6709828T>C , CM000681.1:g.6709828T>C | GRCh37 |
| NC_000019.8:g.6660828T>C | NCBI36 |
| NG_009557.1:g.15835A>G , LRG_27:g.15835A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1589A>G | ENSP00000512083.1:p.Glu530Gly | |
| ENST00000695654.1:c.836A>G | ENSP00000512085.1:p.Glu279Gly | |
| ENST00000695655.1:c.653A>G | ENSP00000512086.1:n.653A>G | |
| ENST00000695692.1:n.1076A>G | ||
| ENST00000245907.11:c.1712A>G MANE Select | ENSP00000245907.4:p.Glu571Gly | |
| ENST00000245907.10:c.1712A>G | ENSP00000245907.4:p.Glu571Gly | |
| ENST00000600763.1:n.345A>G | ||
| NM_000064.3:c.1712A>G | NP_000055.2:p.Glu571Gly | |
| NM_000064.4:c.1712A>G MANE Select | NP_000055.2:p.Glu571Gly |