Linked Data
ClinVar Variation Id:
1362951
ClinVar RCV Id:
RCV001902001
dbSNP Id:
rs765595428
ExAC:
11:6638651 T / C
gnomAD v2:
11-6638651-T-C
gnomAD v4:
11-6617420-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617420T>C , CM000673.2:g.6617420T>C | GRCh38 |
| NC_000011.9:g.6638651T>C , CM000673.1:g.6638651T>C | GRCh37 |
| NC_000011.8:g.6595227T>C | NCBI36 |
| NG_008653.1:g.7042A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.275A>G | ENSP00000507321.1:p.Glu92Gly | |
| ENST00000299427.12:c.389A>G MANE Select | ENSP00000299427.6:p.Glu130Gly | |
| ENST00000428886.7:n.477A>G | ||
| ENST00000436873.7:c.193A>G | ||
| ENST00000524788.2:n.1401A>G | ||
| ENST00000524903.2:n.1517A>G | ||
| ENST00000528571.6:c.*129A>G | ENSP00000434647.1:n.*129A>G | |
| ENST00000528807.2:n.45A>G | ||
| ENST00000530040.2:n.418A>G | ||
| ENST00000533371.6:c.-341A>G | ENSP00000437066.1:n.-341A>G | |
| ENST00000534644.6:n.390A>G | ||
| ENST00000642892.1:c.-288A>G | ENSP00000494165.1:n.-288A>G | |
| ENST00000643439.1:c.*129A>G | ENSP00000495849.1:n.*129A>G | |
| ENST00000643479.1:n.418A>G | ||
| ENST00000643516.1:c.276A>G | ||
| ENST00000644151.1:n.1681A>G | ||
| ENST00000644218.1:c.389A>G | ENSP00000493574.1:p.Glu130Gly | |
| ENST00000644683.1:c.389A>G | ENSP00000494085.1:p.Glu130Gly | |
| ENST00000644810.1:c.230-267A>G | ENSP00000495895.1:n.230-267A>G | |
| ENST00000644831.1:n.418A>G | ||
| ENST00000644933.1:c.-341A>G | ENSP00000496133.1:n.-341A>G | |
| ENST00000645020.1:n.1417A>G | ||
| ENST00000645285.1:c.-341A>G | ENSP00000495058.1:n.-341A>G | |
| ENST00000645331.1:n.608A>G | ||
| ENST00000645620.1:c.-283A>G | ENSP00000493657.1:n.-283A>G | |
| ENST00000646777.1:n.418A>G | ||
| ENST00000647016.1:n.722A>G | ||
| ENST00000647152.1:c.-341A>G | ENSP00000495893.1:n.-341A>G | |
| ENST00000647209.1:c.*258A>G | ENSP00000495558.1:n.*258A>G | |
| ENST00000647346.1:n.1409A>G | ||
| ENST00000299427.10:c.389A>G | ENSP00000299427.6:p.Glu130Gly | |
| ENST00000428886.6:n.411A>G | ||
| ENST00000436873.6:c.389A>G | ENSP00000398136.2:p.Glu130Gly | |
| ENST00000528571.5:c.*129A>G | ENSP00000434647.1:n.*129A>G | |
| ENST00000530040.1:n.501A>G | ||
| ENST00000533371.5:c.-341A>G | ENSP00000437066.1:n.-341A>G | |
| ENST00000534644.5:n.374A>G | ||
| ENST00000611494.4:c.389A>G | ENSP00000484546.1:p.Glu130Gly | |
| NM_000391.3:c.389A>G | NP_000382.3:p.Glu130Gly | |
| NM_000391.4:c.389A>G MANE Select | NP_000382.3:p.Glu130Gly |