Linked Data
ClinVar Variation Id:
68748
dbSNP Id:
rs121908209
ExAC:
11:6638276 C / T
gnomAD v2:
11-6638276-C-T
gnomAD v3:
11-6617045-C-T
gnomAD v4:
11-6617045-C-T
COSMIC:
COSM4035766
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617045C>T , CM000673.2:g.6617045C>T | GRCh38 |
| NC_000011.9:g.6638276C>T , CM000673.1:g.6638276C>T | GRCh37 |
| NC_000011.8:g.6594852C>T | NCBI36 |
| NG_008653.1:g.7417G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.503G>A | ENSP00000507321.1:p.Arg168His | |
| ENST00000299427.12:c.617G>A MANE Select | ENSP00000299427.6:p.Arg206His | |
| ENST00000436873.7:c.312+256G>A | ||
| ENST00000524788.2:n.1776G>A | ||
| ENST00000524903.2:n.1892G>A | ||
| ENST00000528807.2:n.273G>A | ||
| ENST00000530040.2:n.479+314G>A | ||
| ENST00000533371.6:c.-113G>A | ENSP00000437066.1:n.-113G>A | |
| ENST00000534644.6:n.565G>A | ||
| ENST00000642892.1:c.-113G>A | ENSP00000494165.1:n.-113G>A | |
| ENST00000643439.1:c.*357G>A | ENSP00000495849.1:n.*357G>A | |
| ENST00000643479.1:n.646G>A | ||
| ENST00000643516.1:c.395+256G>A | ||
| ENST00000644151.1:n.2056G>A | ||
| ENST00000644218.1:c.617G>A | ENSP00000493574.1:p.Arg206His | |
| ENST00000644683.1:c.*70G>A | ENSP00000494085.1:n.*70G>A | |
| ENST00000644810.1:c.338G>A | ENSP00000495895.1:p.Arg113His | |
| ENST00000644831.1:n.793G>A | ||
| ENST00000644933.1:c.-113G>A | ENSP00000496133.1:n.-113G>A | |
| ENST00000645020.1:n.1792G>A | ||
| ENST00000645285.1:c.-113G>A | ENSP00000495058.1:n.-113G>A | |
| ENST00000645331.1:n.983G>A | ||
| ENST00000645620.1:c.-113G>A | ENSP00000493657.1:n.-113G>A | |
| ENST00000646777.1:n.793G>A | ||
| ENST00000647016.1:n.1097G>A | ||
| ENST00000647152.1:c.-113G>A | ENSP00000495893.1:n.-113G>A | |
| ENST00000647209.1:c.*486G>A | ENSP00000495558.1:n.*486G>A | |
| ENST00000647346.1:n.1637G>A | ||
| ENST00000299427.10:c.617G>A | ENSP00000299427.6:p.Arg206His | |
| ENST00000428886.6:n.786G>A | ||
| ENST00000436873.6:c.450+314G>A | ENSP00000398136.2:n.450+314G>A | |
| ENST00000524788.1:n.317G>A | ||
| ENST00000528571.5:c.*357G>A | ENSP00000434647.1:n.*357G>A | |
| ENST00000528807.1:n.167G>A | ||
| ENST00000533371.5:c.-113G>A | ENSP00000437066.1:n.-113G>A | |
| ENST00000534644.5:n.602G>A | ||
| ENST00000611494.4:c.617G>A | ENSP00000484546.1:p.Arg206His | |
| NM_000391.3:c.617G>A | NP_000382.3:p.Arg206His | |
| NM_000391.4:c.617G>A MANE Select | NP_000382.3:p.Arg206His |