Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6097002T>G , CM000682.2:g.6097002T>G | GRCh38 |
| NC_000020.10:g.6077649T>G , CM000682.1:g.6077649T>G | GRCh37 |
| NC_000020.9:g.6025649T>G | NCBI36 |
| NG_016213.1:g.31543A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.989A>C | ENSP00000514127.1:p.Glu330Ala | |
| ENST00000699096.1:n.1451A>C | ||
| ENST00000699097.1:n.159A>C | ||
| ENST00000217289.9:c.989A>C MANE Select | ENSP00000217289.4:p.Glu330Ala | |
| ENST00000217289.8:c.989A>C | ENSP00000217289.4:p.Glu330Ala | |
| ENST00000536936.1:c.218A>C | ENSP00000441063.1:p.Glu73Ala | |
| NM_017671.4:c.989A>C | NP_060141.3:p.Glu330Ala | |
| XM_024451935.1:c.989A>C | XP_024307703.1:p.Glu330Ala | |
| NM_017671.5:c.989A>C MANE Select | NP_060141.3:p.Glu330Ala |