Linked Data
ClinVar Variation Id:
203687
dbSNP Id:
rs140169311
ExAC:
15:76578741 G / C
gnomAD v2:
15-76578741-G-C
gnomAD v3:
15-76286400-G-C
gnomAD v4:
15-76286400-G-C
COSMIC:
COSM1236593
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76286400G>C , CM000677.2:g.76286400G>C | GRCh38 |
| NC_000015.9:g.76578741G>C , CM000677.1:g.76578741G>C | GRCh37 |
| NC_000015.8:g.74365796G>C | NCBI36 |
| NG_007077.2:g.30070C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559386.2:c.533C>G | ENSP00000452777.2:p.Thr178Arg | |
| ENST00000560044.6:c.*528C>G | ENSP00000452942.1:n.*528C>G | |
| ENST00000560595.6:c.533C>G | ENSP00000453345.2:p.Thr178Arg | |
| ENST00000565910.6:c.533C>G | ENSP00000458001.2:p.Thr178Arg | |
| ENST00000685118.1:c.*528C>G | ENSP00000509473.1:n.*528C>G | |
| ENST00000685548.1:c.533C>G | ENSP00000510343.1:p.Thr178Arg | |
| ENST00000685863.1:c.386C>G | ENSP00000509361.1:p.Thr129Arg | |
| ENST00000687293.1:c.533C>G | ENSP00000509928.1:p.Thr178Arg | |
| ENST00000687975.1:c.*409C>G | ENSP00000508690.1:n.*409C>G | |
| ENST00000688154.1:c.533C>G | ENSP00000510637.1:p.Thr178Arg | |
| ENST00000688389.1:c.533C>G | ENSP00000510491.1:p.Thr178Arg | |
| ENST00000688637.1:n.614C>G | ||
| ENST00000688908.1:c.368C>G | ENSP00000510242.1:p.Thr123Arg | |
| ENST00000689120.1:n.617C>G | ||
| ENST00000689730.1:c.515C>G | ENSP00000510006.1:p.Thr172Arg | |
| ENST00000689739.1:n.614C>G | ||
| ENST00000690610.1:c.533C>G | ENSP00000510473.1:p.Thr178Arg | |
| ENST00000691021.1:c.*528C>G | ENSP00000510805.1:n.*528C>G | |
| ENST00000691071.1:n.312C>G | ||
| ENST00000691695.1:c.386C>G | ENSP00000509402.1:p.Thr129Arg | |
| ENST00000692691.1:c.533C>G | ENSP00000508808.1:p.Thr178Arg | |
| ENST00000693064.1:c.*508C>G | ENSP00000510720.1:n.*508C>G | |
| ENST00000557943.6:c.533C>G MANE Select | ENSP00000452762.1:p.Thr178Arg | |
| ENST00000267950.12:c.*256C>G | ENSP00000267950.8:n.*256C>G | |
| ENST00000433983.6:c.386C>G | ENSP00000399273.2:p.Thr129Arg | |
| ENST00000557943.5:c.533C>G | ENSP00000452762.1:p.Thr178Arg | |
| ENST00000559075.5:n.557C>G | ||
| ENST00000559386.1:c.533C>G | ENSP00000452777.1:p.Thr178Arg | |
| ENST00000559602.5:c.221C>G | ENSP00000452659.1:p.Thr74Arg | |
| ENST00000559758.5:n.374C>G | ||
| ENST00000559973.5:c.243C>G | ||
| ENST00000560044.5:c.*528C>G | ENSP00000452942.1:n.*528C>G | |
| ENST00000560345.5:c.345C>G | ||
| ENST00000560595.5:c.533C>G | ENSP00000453345.1:p.Thr178Arg | |
| ENST00000560726.5:c.-248C>G | ENSP00000453098.1:n.-248C>G | |
| ENST00000560816.5:n.92C>G | ||
| ENST00000560899.5:c.-248C>G | ENSP00000453422.1:n.-248C>G | |
| NM_000126.3:c.533C>G | NP_000117.1:p.Thr178Arg | |
| NM_001127716.1:c.386C>G | NP_001121188.1:p.Thr129Arg | |
| XR_931766.1:n.588C>G | ||
| XR_931766.3:n.614C>G | ||
| NM_000126.4:c.533C>G MANE Select | NP_000117.1:p.Thr178Arg | |
| NM_001127716.2:c.386C>G | NP_001121188.1:p.Thr129Arg |