Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528227G>A , CM000681.2:g.7528227G>A | GRCh38 |
| NC_000019.9:g.7593113G>A , CM000681.1:g.7593113G>A | GRCh37 |
| NC_000019.8:g.7499113G>A | NCBI36 |
| NG_015806.1:g.10618G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.847G>A MANE Select | ENSP00000264079.5:p.Glu283Lys | |
| ENST00000264079.10:c.847G>A | ENSP00000264079.5:p.Glu283Lys | |
| ENST00000394321.9:n.1162G>A | ||
| NM_020533.2:c.847G>A | NP_065394.1:p.Glu283Lys | |
| NM_020533.3:c.847G>A MANE Select | NP_065394.1:p.Glu283Lys |