Linked Data
ClinVar Variation Id:
1432093
ClinVar RCV Id:
RCV001941093
dbSNP Id:
rs199763682
gnomAD v2:
15-76578017-G-C
gnomAD v3:
15-76285676-G-C
gnomAD v4:
15-76285676-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76285676G>C , CM000677.2:g.76285676G>C | GRCh38 |
| NC_000015.9:g.76578017G>C , CM000677.1:g.76578017G>C | GRCh37 |
| NC_000015.8:g.74365072G>C | NCBI36 |
| NG_007077.2:g.30794C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559386.2:c.625C>G | ENSP00000452777.2:p.Arg209Gly | |
| ENST00000560044.6:c.*620C>G | ENSP00000452942.1:n.*620C>G | |
| ENST00000560595.6:c.625C>G | ENSP00000453345.2:p.Arg209Gly | |
| ENST00000565910.6:c.625C>G | ENSP00000458001.2:p.Arg209Gly | |
| ENST00000685118.1:c.*620C>G | ENSP00000509473.1:n.*620C>G | |
| ENST00000685548.1:c.625C>G | ENSP00000510343.1:p.Arg209Gly | |
| ENST00000685863.1:c.478C>G | ENSP00000509361.1:p.Arg160Gly | |
| ENST00000687293.1:c.625C>G | ENSP00000509928.1:p.Arg209Gly | |
| ENST00000687975.1:c.*501C>G | ENSP00000508690.1:n.*501C>G | |
| ENST00000688154.1:c.625C>G | ENSP00000510637.1:p.Arg209Gly | |
| ENST00000688389.1:c.625C>G | ENSP00000510491.1:p.Arg209Gly | |
| ENST00000688637.1:n.706C>G | ||
| ENST00000688908.1:c.460C>G | ENSP00000510242.1:p.Arg154Gly | |
| ENST00000689120.1:n.709C>G | ||
| ENST00000689730.1:c.607C>G | ENSP00000510006.1:p.Arg203Gly | |
| ENST00000689739.1:n.706C>G | ||
| ENST00000690610.1:c.625C>G | ENSP00000510473.1:p.Arg209Gly | |
| ENST00000691021.1:c.*620C>G | ENSP00000510805.1:n.*620C>G | |
| ENST00000691071.1:n.404C>G | ||
| ENST00000691695.1:c.478C>G | ENSP00000509402.1:p.Arg160Gly | |
| ENST00000692691.1:c.625C>G | ENSP00000508808.1:p.Arg209Gly | |
| ENST00000693064.1:c.*600C>G | ENSP00000510720.1:n.*600C>G | |
| ENST00000557943.6:c.625C>G MANE Select | ENSP00000452762.1:p.Arg209Gly | |
| ENST00000267950.12:c.*348C>G | ENSP00000267950.8:n.*348C>G | |
| ENST00000433983.6:c.478C>G | ENSP00000399273.2:p.Arg160Gly | |
| ENST00000557943.5:c.625C>G | ENSP00000452762.1:p.Arg209Gly | |
| ENST00000559075.5:n.649C>G | ||
| ENST00000559386.1:c.625C>G | ENSP00000452777.1:p.Arg209Gly | |
| ENST00000559602.5:c.313C>G | ENSP00000452659.1:p.Arg105Gly | |
| ENST00000559758.5:n.466C>G | ||
| ENST00000559973.5:c.335C>G | ||
| ENST00000560044.5:c.*620C>G | ENSP00000452942.1:n.*620C>G | |
| ENST00000560345.5:c.437C>G | ||
| ENST00000560595.5:c.625C>G | ENSP00000453345.1:p.Arg209Gly | |
| ENST00000560726.5:c.-156C>G | ENSP00000453098.1:n.-156C>G | |
| ENST00000560816.5:n.184C>G | ||
| ENST00000560899.5:c.-156C>G | ENSP00000453422.1:n.-156C>G | |
| NM_000126.3:c.625C>G | NP_000117.1:p.Arg209Gly | |
| NM_001127716.1:c.478C>G | NP_001121188.1:p.Arg160Gly | |
| XR_931766.1:n.680C>G | ||
| XR_931766.3:n.706C>G | ||
| NM_000126.4:c.625C>G MANE Select | NP_000117.1:p.Arg209Gly | |
| NM_001127716.2:c.478C>G | NP_001121188.1:p.Arg160Gly |