Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063565C>A , CM000663.2:g.55063565C>A | GRCh38 |
| NC_000001.10:g.55529238C>A , CM000663.1:g.55529238C>A | GRCh37 |
| NC_000001.9:g.55301826C>A | NCBI36 |
| NG_009061.1:g.29019C>A , LRG_275:g.29019C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*400C>A | ENSP00000501161.2:n.*400C>A | |
| ENST00000710286.1:c.2417C>A | ENSP00000518176.1:p.Ala806Asp | |
| ENST00000673903.1:c.1685C>A | ENSP00000501257.1:p.Ala562Asp | |
| ENST00000302118.5:c.2060C>A MANE Select | ENSP00000303208.5:p.Ala687Asp | |
| ENST00000490692.1:n.2606C>A | ||
| NM_174936.3:c.2060C>A , LRG_275t1:c.2060C>A | NP_777596.2:p.Ala687Asp | |
| NR_110451.1:n.1667C>A | ||
| XM_011541193.1:c.1181C>A | XP_011539495.1:p.Ala394Asp | |
| NM_174936.4:c.2060C>A MANE Select | NP_777596.2:p.Ala687Asp | |
| NR_110451.2:n.1667C>A |