Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709790T>C , CM000681.2:g.6709790T>C | GRCh38 |
| NC_000019.9:g.6709801T>C , CM000681.1:g.6709801T>C | GRCh37 |
| NC_000019.8:g.6660801T>C | NCBI36 |
| NG_009557.1:g.15862A>G , LRG_27:g.15862A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1616A>G | ENSP00000512083.1:p.Gln539Arg | |
| ENST00000695654.1:c.863A>G | ENSP00000512085.1:p.Gln288Arg | |
| ENST00000695655.1:c.680A>G | ENSP00000512086.1:n.680A>G | |
| ENST00000695692.1:n.1103A>G | ||
| ENST00000245907.11:c.1739A>G MANE Select | ENSP00000245907.4:p.Gln580Arg | |
| ENST00000245907.10:c.1739A>G | ENSP00000245907.4:p.Gln580Arg | |
| ENST00000600763.1:n.372A>G | ||
| NM_000064.3:c.1739A>G | NP_000055.2:p.Gln580Arg | |
| NM_000064.4:c.1739A>G MANE Select | NP_000055.2:p.Gln580Arg |