Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218688C>A , CM000676.2:g.93218688C>A | GRCh38 |
| NC_000014.8:g.93685034C>A , CM000676.1:g.93685034C>A | GRCh37 |
| NC_000014.7:g.92754787C>A | NCBI36 |
| NG_051089.1:g.16633C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.763C>A MANE Select | ENSP00000013070.6:p.Gln255Lys | |
| ENST00000013070.10:c.763C>A | ENSP00000013070.6:p.Gln255Lys | |
| ENST00000416753.5:c.535C>A | ENSP00000391706.2:p.Gln179Lys | |
| ENST00000553674.1:c.*464C>A | ENSP00000450470.1:n.*464C>A | |
| ENST00000553857.5:c.378+3407C>A | ||
| ENST00000555329.1:c.8C>A | ||
| NM_175748.3:c.763C>A | NP_786924.2:p.Gln255Lys | |
| NR_038150.1:n.865C>A | ||
| NM_175748.4:c.763C>A MANE Select | NP_786924.2:p.Gln255Lys | |
| NR_038150.2:n.665C>A |