Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519831G>T , CM000674.2:g.52519831G>T | GRCh38 |
| NC_000012.11:g.52913615G>T , CM000674.1:g.52913615G>T | GRCh37 |
| NC_000012.10:g.51199882G>T | NCBI36 |
| NG_008297.1:g.5629C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.466C>A MANE Select | ENSP00000252242.4:p.Gln156Lys | |
| ENST00000252242.8:c.466C>A | ENSP00000252242.4:p.Gln156Lys | |
| ENST00000549420.1:c.136C>A | ENSP00000447209.1:p.Gln46Lys | |
| ENST00000551275.1:c.361C>A | ENSP00000448041.1:p.Gln121Lys | |
| ENST00000552629.5:n.564C>A | ||
| NM_000424.3:c.466C>A | NP_000415.2:p.Gln156Lys | |
| NM_000424.4:c.466C>A MANE Select | NP_000415.2:p.Gln156Lys |