Linked Data
ClinVar Variation Id:
936301
ClinVar RCV Id:
RCV001205076
dbSNP Id:
rs747540137
ExAC:
11:6638594 T / C
gnomAD v2:
11-6638594-T-C
gnomAD v4:
11-6617363-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617363T>C , CM000673.2:g.6617363T>C | GRCh38 |
| NC_000011.9:g.6638594T>C , CM000673.1:g.6638594T>C | GRCh37 |
| NC_000011.8:g.6595170T>C | NCBI36 |
| NG_008653.1:g.7099A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.332A>G | ENSP00000507321.1:p.His111Arg | |
| ENST00000299427.12:c.446A>G MANE Select | ENSP00000299427.6:p.His149Arg | |
| ENST00000428886.7:n.534A>G | ||
| ENST00000436873.7:c.250A>G | ||
| ENST00000524788.2:n.1458A>G | ||
| ENST00000524903.2:n.1574A>G | ||
| ENST00000528571.6:c.*186A>G | ENSP00000434647.1:n.*186A>G | |
| ENST00000528807.2:n.102A>G | ||
| ENST00000530040.2:n.475A>G | ||
| ENST00000533371.6:c.-284A>G | ENSP00000437066.1:n.-284A>G | |
| ENST00000534644.6:n.447A>G | ||
| ENST00000642892.1:c.-231A>G | ENSP00000494165.1:n.-231A>G | |
| ENST00000643439.1:c.*186A>G | ENSP00000495849.1:n.*186A>G | |
| ENST00000643479.1:n.475A>G | ||
| ENST00000643516.1:c.333A>G | ||
| ENST00000644151.1:n.1738A>G | ||
| ENST00000644218.1:c.446A>G | ENSP00000493574.1:p.His149Arg | |
| ENST00000644683.1:c.446A>G | ENSP00000494085.1:p.His149Arg | |
| ENST00000644810.1:c.230-210A>G | ENSP00000495895.1:n.230-210A>G | |
| ENST00000644831.1:n.475A>G | ||
| ENST00000644933.1:c.-284A>G | ENSP00000496133.1:n.-284A>G | |
| ENST00000645020.1:n.1474A>G | ||
| ENST00000645285.1:c.-284A>G | ENSP00000495058.1:n.-284A>G | |
| ENST00000645331.1:n.665A>G | ||
| ENST00000645620.1:c.-226A>G | ENSP00000493657.1:n.-226A>G | |
| ENST00000646777.1:n.475A>G | ||
| ENST00000647016.1:n.779A>G | ||
| ENST00000647152.1:c.-284A>G | ENSP00000495893.1:n.-284A>G | |
| ENST00000647209.1:c.*315A>G | ENSP00000495558.1:n.*315A>G | |
| ENST00000647346.1:n.1466A>G | ||
| ENST00000299427.10:c.446A>G | ENSP00000299427.6:p.His149Arg | |
| ENST00000428886.6:n.468A>G | ||
| ENST00000436873.6:c.446A>G | ENSP00000398136.2:p.His149Arg | |
| ENST00000528571.5:c.*186A>G | ENSP00000434647.1:n.*186A>G | |
| ENST00000533371.5:c.-284A>G | ENSP00000437066.1:n.-284A>G | |
| ENST00000534644.5:n.431A>G | ||
| ENST00000611494.4:c.446A>G | ENSP00000484546.1:p.His149Arg | |
| NM_000391.3:c.446A>G | NP_000382.3:p.His149Arg | |
| NM_000391.4:c.446A>G MANE Select | NP_000382.3:p.His149Arg |