Linked Data
ClinVar Variation Id:
3073786
ClinVar RCV Id:
RCV004016792
dbSNP Id:
rs578162610
gnomAD v2:
1-55527147-C-A
gnomAD v3:
1-55061474-C-A
gnomAD v4:
1-55061474-C-A
COSMIC:
COSM1639923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061474C>A , CM000663.2:g.55061474C>A | GRCh38 |
| NC_000001.10:g.55527147C>A , CM000663.1:g.55527147C>A | GRCh37 |
| NC_000001.9:g.55299735C>A | NCBI36 |
| NG_009061.1:g.26928C>A , LRG_275:g.26928C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*121C>A | ENSP00000501161.2:n.*121C>A | |
| ENST00000710286.1:c.2138C>A | ENSP00000518176.1:p.Ala713Asp | |
| ENST00000673903.1:c.1406C>A | ENSP00000501257.1:p.Ala469Asp | |
| ENST00000673913.1:c.631C>A | ENSP00000501161.1:n.631C>A | |
| ENST00000302118.5:c.1781C>A MANE Select | ENSP00000303208.5:p.Ala594Asp | |
| ENST00000490692.1:n.2327C>A | ||
| NM_174936.3:c.1781C>A , LRG_275t1:c.1781C>A | NP_777596.2:p.Ala594Asp | |
| NR_110451.1:n.1388C>A | ||
| XM_011541193.1:c.902C>A | XP_011539495.1:p.Ala301Asp | |
| NM_174936.4:c.1781C>A MANE Select | NP_777596.2:p.Ala594Asp | |
| NR_110451.2:n.1388C>A |