Linked Data
ClinVar Variation Id:
220122
ClinVar RCV Id:
RCV000205905
RCV000437821
RCV000565190
RCV000589241
RCV001450086
RCV002311320
RCV003316137
dbSNP Id:
rs780665234
ExAC:
18:48581302 C / G
gnomAD v2:
18-48581302-C-G
gnomAD v3:
18-51054932-C-G
gnomAD v4:
18-51054932-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51054932C>G , CM000680.2:g.51054932C>G | GRCh38 |
| NC_000018.9:g.48581302C>G , CM000680.1:g.48581302C>G | GRCh37 |
| NC_000018.8:g.46835300C>G | NCBI36 |
| NG_013013.2:g.91893C>G , LRG_318:g.91893C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.606C>G | ENSP00000465878.2:p.Ala202= | |
| ENST00000589076.6:c.606C>G | ENSP00000466934.2:p.Ala202= | |
| ENST00000589941.2:c.606C>G | ENSP00000465874.2:p.Ala202= | |
| ENST00000590061.2:c.606C>G | ENSP00000464772.2:p.Ala202= | |
| ENST00000593223.2:c.606C>G | ENSP00000466118.2:p.Ala202= | |
| ENST00000611848.2:c.606C>G | ENSP00000478613.2:p.Ala202= | |
| ENST00000684953.1:n.1978C>G | ||
| ENST00000688307.1:n.94C>G | ||
| ENST00000342988.8:c.606C>G MANE Select | ENSP00000341551.3:p.Ala202= | |
| ENST00000342988.7:c.606C>G | ENSP00000341551.3:p.Ala202= | |
| ENST00000398417.6:c.606C>G | ENSP00000381452.1:p.Ala202= | |
| ENST00000588745.5:c.606C>G | ENSP00000464901.1:p.Ala202= | |
| ENST00000590722.2:c.*782C>G | ENSP00000465737.1:n.*782C>G | |
| ENST00000591126.5:n.2607C>G | ||
| ENST00000592186.5:c.606C>G | ENSP00000468611.1:p.Ala202= | |
| ENST00000592911.5:n.384C>G | ||
| NM_005359.5:c.606C>G , LRG_318t1:c.606C>G | NP_005350.1:p.Ala202= | |
| NM_005359.6:c.606C>G MANE Select | NP_005350.1:p.Ala202= |