Linked Data
ClinVar Variation Id:
1435921
ClinVar RCV Id:
RCV002001959
dbSNP Id:
rs1367914404
gnomAD v2:
11-6638609-C-T
gnomAD v3:
11-6617378-C-T
gnomAD v4:
11-6617378-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617378C>T , CM000673.2:g.6617378C>T | GRCh38 |
| NC_000011.9:g.6638609C>T , CM000673.1:g.6638609C>T | GRCh37 |
| NC_000011.8:g.6595185C>T | NCBI36 |
| NG_008653.1:g.7084G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.317G>A | ENSP00000507321.1:p.Gly106Glu | |
| ENST00000299427.12:c.431G>A MANE Select | ENSP00000299427.6:p.Gly144Glu | |
| ENST00000428886.7:n.519G>A | ||
| ENST00000436873.7:c.235G>A | ||
| ENST00000524788.2:n.1443G>A | ||
| ENST00000524903.2:n.1559G>A | ||
| ENST00000528571.6:c.*171G>A | ENSP00000434647.1:n.*171G>A | |
| ENST00000528807.2:n.87G>A | ||
| ENST00000530040.2:n.460G>A | ||
| ENST00000533371.6:c.-299G>A | ENSP00000437066.1:n.-299G>A | |
| ENST00000534644.6:n.432G>A | ||
| ENST00000642892.1:c.-246G>A | ENSP00000494165.1:n.-246G>A | |
| ENST00000643439.1:c.*171G>A | ENSP00000495849.1:n.*171G>A | |
| ENST00000643479.1:n.460G>A | ||
| ENST00000643516.1:c.318G>A | ||
| ENST00000644151.1:n.1723G>A | ||
| ENST00000644218.1:c.431G>A | ENSP00000493574.1:p.Gly144Glu | |
| ENST00000644683.1:c.431G>A | ENSP00000494085.1:p.Gly144Glu | |
| ENST00000644810.1:c.230-225G>A | ENSP00000495895.1:n.230-225G>A | |
| ENST00000644831.1:n.460G>A | ||
| ENST00000644933.1:c.-299G>A | ENSP00000496133.1:n.-299G>A | |
| ENST00000645020.1:n.1459G>A | ||
| ENST00000645285.1:c.-299G>A | ENSP00000495058.1:n.-299G>A | |
| ENST00000645331.1:n.650G>A | ||
| ENST00000645620.1:c.-241G>A | ENSP00000493657.1:n.-241G>A | |
| ENST00000646777.1:n.460G>A | ||
| ENST00000647016.1:n.764G>A | ||
| ENST00000647152.1:c.-299G>A | ENSP00000495893.1:n.-299G>A | |
| ENST00000647209.1:c.*300G>A | ENSP00000495558.1:n.*300G>A | |
| ENST00000647346.1:n.1451G>A | ||
| ENST00000299427.10:c.431G>A | ENSP00000299427.6:p.Gly144Glu | |
| ENST00000428886.6:n.453G>A | ||
| ENST00000436873.6:c.431G>A | ENSP00000398136.2:p.Gly144Glu | |
| ENST00000528571.5:c.*171G>A | ENSP00000434647.1:n.*171G>A | |
| ENST00000530040.1:n.543G>A | ||
| ENST00000533371.5:c.-299G>A | ENSP00000437066.1:n.-299G>A | |
| ENST00000534644.5:n.416G>A | ||
| ENST00000611494.4:c.431G>A | ENSP00000484546.1:p.Gly144Glu | |
| NM_000391.3:c.431G>A | NP_000382.3:p.Gly144Glu | |
| NM_000391.4:c.431G>A MANE Select | NP_000382.3:p.Gly144Glu |