Linked Data
ClinVar Variation Id:
207564
dbSNP Id:
rs759080581
ExAC:
11:6640040 G / A
gnomAD v2:
11-6640040-G-A
gnomAD v4:
11-6618809-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6618809G>A , CM000673.2:g.6618809G>A | GRCh38 |
| NC_000011.9:g.6640040G>A , CM000673.1:g.6640040G>A | GRCh37 |
| NC_000011.8:g.6596616G>A | NCBI36 |
| NG_008653.1:g.5653C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.82C>T | ENSP00000507321.1:p.Gln28Ter | |
| ENST00000299427.12:c.196C>T MANE Select | ENSP00000299427.6:p.Gln66Ter | |
| ENST00000428886.7:n.284C>T | ||
| ENST00000524788.2:n.209C>T | ||
| ENST00000524903.2:n.325C>T | ||
| ENST00000528571.6:c.89+387C>T | ENSP00000434647.1:n.89+387C>T | |
| ENST00000528657.2:c.*383C>T | ENSP00000435001.1:n.*383C>T | |
| ENST00000530040.2:n.225C>T | ||
| ENST00000531754.2:c.196C>T | ENSP00000493706.1:p.Gln66Ter | |
| ENST00000533371.6:c.-534C>T | ENSP00000437066.1:n.-534C>T | |
| ENST00000534644.6:n.197C>T | ||
| ENST00000642892.1:c.-481C>T | ENSP00000494165.1:n.-481C>T | |
| ENST00000643439.1:c.89+387C>T | ENSP00000495849.1:n.89+387C>T | |
| ENST00000643479.1:n.225C>T | ||
| ENST00000643516.1:c.83C>T | ||
| ENST00000644151.1:n.489C>T | ||
| ENST00000644218.1:c.196C>T | ENSP00000493574.1:p.Gln66Ter | |
| ENST00000644683.1:c.196C>T | ENSP00000494085.1:p.Gln66Ter | |
| ENST00000644810.1:c.196C>T | ENSP00000495895.1:p.Gln66Ter | |
| ENST00000644831.1:n.225C>T | ||
| ENST00000644933.1:c.-534C>T | ENSP00000496133.1:n.-534C>T | |
| ENST00000645020.1:n.225C>T | ||
| ENST00000645285.1:c.-501+387C>T | ENSP00000495058.1:n.-501+387C>T | |
| ENST00000645331.1:n.218C>T | ||
| ENST00000645620.1:c.-476C>T | ENSP00000493657.1:n.-476C>T | |
| ENST00000646777.1:n.225C>T | ||
| ENST00000647152.1:c.-501+387C>T | ENSP00000495893.1:n.-501+387C>T | |
| ENST00000647209.1:c.*65C>T | ENSP00000495558.1:n.*65C>T | |
| ENST00000647346.1:n.217C>T | ||
| ENST00000299427.10:c.196C>T | ENSP00000299427.6:p.Gln66Ter | |
| ENST00000428886.6:n.218C>T | ||
| ENST00000436873.6:c.196C>T | ENSP00000398136.2:p.Gln66Ter | |
| ENST00000524903.1:n.293C>T | ||
| ENST00000528571.5:c.89+387C>T | ENSP00000434647.1:n.89+387C>T | |
| ENST00000528657.1:c.*383C>T | ENSP00000435001.1:n.*383C>T | |
| ENST00000528917.1:n.497C>T | ||
| ENST00000530040.1:n.308C>T | ||
| ENST00000531754.1:n.244C>T | ||
| ENST00000533371.5:c.-534C>T | ENSP00000437066.1:n.-534C>T | |
| ENST00000534644.5:n.214+387C>T | ||
| ENST00000611494.4:c.196C>T | ENSP00000484546.1:p.Gln66Ter | |
| NM_000391.3:c.196C>T | NP_000382.3:p.Gln66Ter | |
| NM_000391.4:c.196C>T MANE Select | NP_000382.3:p.Gln66Ter |