Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924282G>A , CM000675.2:g.27924282G>A | GRCh38 |
| NC_000013.10:g.28498419G>A , CM000675.1:g.28498419G>A | GRCh37 |
| NC_000013.9:g.27396419G>A | NCBI36 |
| NG_008183.1:g.9252G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.433G>A MANE Select | ENSP00000370421.4:p.Glu145Lys | |
| ENST00000381033.4:c.433G>A | ENSP00000370421.4:p.Glu145Lys | |
| NM_000209.3:c.433G>A | NP_000200.1:p.Glu145Lys | |
| XR_941578.1:n.3560G>A | ||
| XR_941579.1:n.2159G>A | ||
| XR_941580.1:n.1075G>A | ||
| XR_941578.2:n.3572G>A | ||
| XR_941580.2:n.1087G>A | ||
| NM_000209.4:c.433G>A MANE Select | NP_000200.1:p.Glu145Lys |