Linked Data
ClinVar Variation Id:
196484
dbSNP Id:
rs3804506
ExAC:
6:52303291 C / G
gnomAD v2:
6-52303291-C-G
gnomAD v3:
6-52438493-C-G
gnomAD v4:
6-52438493-C-G
COSMIC:
COSM3355082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52438493C>G , CM000668.2:g.52438493C>G | GRCh38 |
| NC_000006.11:g.52303291C>G , CM000668.1:g.52303291C>G | GRCh37 |
| NC_000006.10:g.52411250C>G | NCBI36 |
| NG_016760.1:g.23298C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.475C>G MANE Select | ENSP00000360107.4:p.Arg159Gly | |
| ENST00000480623.6:c.475C>G | ENSP00000434498.2:p.Arg159Gly | |
| ENST00000635760.1:c.151C>G | ENSP00000489765.1:p.Arg51Gly | |
| ENST00000635812.1:c.475C>G | ENSP00000490859.1:p.Arg159Gly | |
| ENST00000635866.1:c.*344C>G | ENSP00000489866.1:n.*344C>G | |
| ENST00000635911.1:n.736C>G | ||
| ENST00000635984.1:c.151C>G | ENSP00000489921.1:p.Arg51Gly | |
| ENST00000635996.1:c.475C>G | ENSP00000490256.1:p.Arg159Gly | |
| ENST00000636107.1:c.475C>G | ENSP00000489680.1:p.Arg159Gly | |
| ENST00000636253.1:n.129C>G | ||
| ENST00000636311.1:n.467+39C>G | ||
| ENST00000636343.1:c.141C>G | ||
| ENST00000636379.1:c.286-14195C>G | ENSP00000490622.1:n.286-14195C>G | |
| ENST00000636398.1:c.142C>G | ENSP00000489654.1:p.Arg48Gly | |
| ENST00000636489.1:c.418C>G | ENSP00000489998.1:p.Arg140Gly | |
| ENST00000636566.1:c.151C>G | ENSP00000490602.1:p.Arg51Gly | |
| ENST00000636702.1:c.445C>G | ENSP00000489623.1:p.Arg149Gly | |
| ENST00000636954.1:c.418C>G | ENSP00000489966.1:p.Arg140Gly | |
| ENST00000637089.1:c.475C>G | ENSP00000489854.1:p.Arg159Gly | |
| ENST00000637200.1:c.*491C>G | ENSP00000490567.1:n.*491C>G | |
| ENST00000637263.1:c.475C>G | ENSP00000489700.1:p.Arg159Gly | |
| ENST00000637340.1:n.1143C>G | ||
| ENST00000637353.1:c.475C>G | ENSP00000490441.1:p.Arg159Gly | |
| ENST00000637602.1:c.*176C>G | ENSP00000490074.1:n.*176C>G | |
| ENST00000637849.1:n.539C>G | ||
| ENST00000637892.1:n.679C>G | ||
| ENST00000638075.1:c.-144C>G | ENSP00000490711.1:n.-144C>G | |
| ENST00000371068.9:c.475C>G | ENSP00000360107.4:p.Arg159Gly | |
| ENST00000480623.5:c.475C>G | ENSP00000434498.1:p.Arg159Gly | |
| ENST00000491749.1:n.834C>G | ||
| ENST00000538167.2:c.418C>G | ENSP00000444521.1:p.Arg140Gly | |
| NM_001172420.1:c.418C>G | NP_001165891.1:p.Arg140Gly | |
| NM_018100.3:c.475C>G | NP_060570.2:p.Arg159Gly | |
| NR_033327.1:n.690C>G | ||
| NM_018100.4:c.475C>G MANE Select | NP_060570.2:p.Arg159Gly | |
| NM_001172420.2:c.418C>G | NP_001165891.1:p.Arg140Gly | |
| NR_033327.2:n.544C>G |