Linked Data
ClinVar Variation Id:
206392
dbSNP Id:
rs144257114
ExAC:
19:50367292 C / T
gnomAD v2:
19-50367292-C-T
gnomAD v3:
19-49864035-C-T
gnomAD v4:
19-49864035-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49864035C>T , CM000681.2:g.49864035C>T | GRCh38 |
| NC_000019.9:g.50367292C>T , CM000681.1:g.50367292C>T | GRCh37 |
| NC_000019.8:g.55059104C>T | NCBI36 |
| NG_027717.1:g.8531G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.673G>A MANE Select | ENSP00000323511.2:p.Gly225Arg | |
| ENST00000636214.1:c.*210G>A | ENSP00000489983.1:n.*210G>A | |
| ENST00000322344.7:c.673G>A | ENSP00000323511.2:p.Gly225Arg | |
| ENST00000593706.3:n.28G>A | ||
| ENST00000593946.5:c.*600G>A | ENSP00000468896.1:n.*600G>A | |
| ENST00000594661.5:n.1174G>A | ||
| ENST00000596014.5:c.673G>A | ENSP00000472300.1:p.Gly225Arg | |
| ENST00000599543.3:c.673G>A | ENSP00000469848.2:p.Gly225Arg | |
| ENST00000600573.5:c.673G>A | ENSP00000469826.1:p.Gly225Arg | |
| ENST00000600910.5:c.673G>A | ENSP00000473137.1:p.Gly225Arg | |
| ENST00000627232.2:c.593G>A | ENSP00000486037.1:n.593G>A | |
| ENST00000627317.1:c.294G>A | ||
| ENST00000629179.1:n.444G>A | ||
| ENST00000631020.2:c.636+144G>A | ENSP00000486707.1:n.636+144G>A | |
| NM_007254.3:c.673G>A | NP_009185.2:p.Gly225Arg | |
| NM_007254.4:c.673G>A MANE Select | NP_009185.2:p.Gly225Arg |