Linked Data
ClinVar Variation Id:
2184950
ClinVar RCV Id:
RCV002632365
dbSNP Id:
rs1180399013
gnomAD v2:
15-80454618-A-G
gnomAD v3:
15-80162276-A-G
gnomAD v4:
15-80162276-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80162276A>G , CM000677.2:g.80162276A>G | GRCh38 |
| NC_000015.9:g.80454618A>G , CM000677.1:g.80454618A>G | GRCh37 |
| NC_000015.8:g.78241673A>G | NCBI36 |
| NG_012833.1:g.14278A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.395A>G | ENSP00000507680.1:p.Gln132Arg | |
| ENST00000682012.1:n.470A>G | ||
| ENST00000683593.1:n.2058A>G | ||
| ENST00000684363.1:c.365-116A>G | ENSP00000507314.1:n.365-116A>G | |
| ENST00000684569.1:n.440A>G | ||
| ENST00000561421.6:c.395A>G MANE Select | ENSP00000453347.2:p.Gln132Arg | |
| ENST00000646551.1:n.1882A>G | ||
| ENST00000261755.9:c.395A>G | ENSP00000261755.5:p.Gln132Arg | |
| ENST00000407106.5:c.395A>G | ENSP00000385080.1:p.Gln132Arg | |
| ENST00000537726.5:n.541A>G | ||
| ENST00000539156.5:c.185A>G | ENSP00000454271.1:p.Gln62Arg | |
| ENST00000558022.5:c.395A>G | ENSP00000453152.1:p.Gln132Arg | |
| ENST00000558627.1:n.323A>G | ||
| ENST00000558767.5:n.656A>G | ||
| ENST00000561369.1:n.539A>G | ||
| ENST00000561421.5:c.395A>G | ENSP00000453347.1:p.Gln132Arg | |
| NM_000137.2:c.395A>G | NP_000128.1:p.Gln132Arg | |
| XM_024449872.1:c.395A>G | XP_024305640.1:p.Gln132Arg | |
| NM_000137.4:c.395A>G MANE Select | NP_000128.1:p.Gln132Arg | |
| NM_001374377.1:c.395A>G | NP_001361306.1:p.Gln132Arg | |
| NM_001374380.1:c.395A>G | NP_001361309.1:p.Gln132Arg |