Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411040C>T , CM000677.2:g.48411040C>T | GRCh38 |
| NC_000015.9:g.48703237C>T , CM000677.1:g.48703237C>T | GRCh37 |
| NC_000015.8:g.46490529C>T | NCBI36 |
| NG_008805.2:g.239749G>A , LRG_778:g.239749G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1374G>A | ENSP00000453958.2:n.*1374G>A | |
| ENST00000682158.1:n.1947G>A | ||
| ENST00000682170.1:n.2747G>A | ||
| ENST00000682767.1:n.1863G>A | ||
| ENST00000316623.10:c.8566G>A MANE Select | ENSP00000325527.5:p.Gly2856Ser | |
| ENST00000316623.9:c.8566G>A | ENSP00000325527.5:p.Gly2856Ser | |
| ENST00000559133.5:c.3935G>A | ||
| NM_000138.4:c.8566G>A , LRG_778t1:c.8566G>A | NP_000129.3:p.Gly2856Ser | |
| NM_000138.5:c.8566G>A MANE Select | NP_000129.3:p.Gly2856Ser |