Linked Data
ClinVar Variation Id:
68744
dbSNP Id:
rs121908195
gnomAD v2:
11-6640007-C-T
gnomAD v3:
11-6618776-C-T
gnomAD v4:
11-6618776-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6618776C>T , CM000673.2:g.6618776C>T | GRCh38 |
| NC_000011.9:g.6640007C>T , CM000673.1:g.6640007C>T | GRCh37 |
| NC_000011.8:g.6596583C>T | NCBI36 |
| NG_008653.1:g.5686G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.115G>A | ENSP00000507321.1:p.Gly39Arg | |
| ENST00000299427.12:c.229G>A MANE Select | ENSP00000299427.6:p.Gly77Arg | |
| ENST00000428886.7:n.317G>A | ||
| ENST00000436873.7:c.33G>A | ||
| ENST00000524788.2:n.242G>A | ||
| ENST00000524903.2:n.358G>A | ||
| ENST00000528571.6:c.89+420G>A | ENSP00000434647.1:n.89+420G>A | |
| ENST00000528657.2:c.*416G>A | ENSP00000435001.1:n.*416G>A | |
| ENST00000530040.2:n.258G>A | ||
| ENST00000531754.2:c.229G>A | ENSP00000493706.1:p.Gly77Ser | |
| ENST00000533371.6:c.-501G>A | ENSP00000437066.1:n.-501G>A | |
| ENST00000534644.6:n.230G>A | ||
| ENST00000642892.1:c.-448G>A | ENSP00000494165.1:n.-448G>A | |
| ENST00000643439.1:c.89+420G>A | ENSP00000495849.1:n.89+420G>A | |
| ENST00000643479.1:n.258G>A | ||
| ENST00000643516.1:c.116G>A | ||
| ENST00000644151.1:n.522G>A | ||
| ENST00000644218.1:c.229G>A | ENSP00000493574.1:p.Gly77Arg | |
| ENST00000644683.1:c.229G>A | ENSP00000494085.1:p.Gly77Arg | |
| ENST00000644810.1:c.229G>A | ENSP00000495895.1:p.Val77Met | |
| ENST00000644831.1:n.258G>A | ||
| ENST00000644933.1:c.-501G>A | ENSP00000496133.1:n.-501G>A | |
| ENST00000645020.1:n.258G>A | ||
| ENST00000645285.1:c.-501+420G>A | ENSP00000495058.1:n.-501+420G>A | |
| ENST00000645331.1:n.251G>A | ||
| ENST00000645620.1:c.-443G>A | ENSP00000493657.1:n.-443G>A | |
| ENST00000646777.1:n.258G>A | ||
| ENST00000647152.1:c.-501+420G>A | ENSP00000495893.1:n.-501+420G>A | |
| ENST00000647209.1:c.*98G>A | ENSP00000495558.1:n.*98G>A | |
| ENST00000647346.1:n.250G>A | ||
| ENST00000299427.10:c.229G>A | ENSP00000299427.6:p.Gly77Arg | |
| ENST00000428886.6:n.251G>A | ||
| ENST00000436873.6:c.229G>A | ENSP00000398136.2:p.Gly77Arg | |
| ENST00000524903.1:n.326G>A | ||
| ENST00000528571.5:c.89+420G>A | ENSP00000434647.1:n.89+420G>A | |
| ENST00000528657.1:c.*416G>A | ENSP00000435001.1:n.*416G>A | |
| ENST00000528917.1:n.530G>A | ||
| ENST00000530040.1:n.341G>A | ||
| ENST00000531754.1:n.277G>A | ||
| ENST00000533371.5:c.-501G>A | ENSP00000437066.1:n.-501G>A | |
| ENST00000534644.5:n.214+420G>A | ||
| ENST00000611494.4:c.229G>A | ENSP00000484546.1:p.Gly77Arg | |
| NM_000391.3:c.229G>A | NP_000382.3:p.Gly77Arg | |
| NM_000391.4:c.229G>A MANE Select | NP_000382.3:p.Gly77Arg |