Linked Data
ClinVar Variation Id:
371293
dbSNP Id:
rs752164603
ExAC:
11:6638253 G / A
gnomAD v2:
11-6638253-G-A
gnomAD v4:
11-6617022-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617022G>A , CM000673.2:g.6617022G>A | GRCh38 |
| NC_000011.9:g.6638253G>A , CM000673.1:g.6638253G>A | GRCh37 |
| NC_000011.8:g.6594829G>A | NCBI36 |
| NG_008653.1:g.7440C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682424.1:c.526C>T | ENSP00000507321.1:p.Gln176Ter | |
| ENST00000299427.12:c.640C>T MANE Select | ENSP00000299427.6:p.Gln214Ter | |
| ENST00000436873.7:c.312+279C>T | ||
| ENST00000524788.2:n.1799C>T | ||
| ENST00000524903.2:n.1915C>T | ||
| ENST00000528807.2:n.296C>T | ||
| ENST00000530040.2:n.479+337C>T | ||
| ENST00000533371.6:c.-90C>T | ENSP00000437066.1:n.-90C>T | |
| ENST00000534644.6:n.588C>T | ||
| ENST00000642892.1:c.-90C>T | ENSP00000494165.1:n.-90C>T | |
| ENST00000643439.1:c.*380C>T | ENSP00000495849.1:n.*380C>T | |
| ENST00000643479.1:n.669C>T | ||
| ENST00000643516.1:c.395+279C>T | ||
| ENST00000644151.1:n.2079C>T | ||
| ENST00000644218.1:c.640C>T | ENSP00000493574.1:p.Gln214Ter | |
| ENST00000644683.1:c.*93C>T | ENSP00000494085.1:n.*93C>T | |
| ENST00000644810.1:c.361C>T | ENSP00000495895.1:p.Gln121Ter | |
| ENST00000644831.1:n.816C>T | ||
| ENST00000644933.1:c.-90C>T | ENSP00000496133.1:n.-90C>T | |
| ENST00000645020.1:n.1815C>T | ||
| ENST00000645285.1:c.-90C>T | ENSP00000495058.1:n.-90C>T | |
| ENST00000645331.1:n.1006C>T | ||
| ENST00000645620.1:c.-90C>T | ENSP00000493657.1:n.-90C>T | |
| ENST00000646777.1:n.816C>T | ||
| ENST00000647016.1:n.1120C>T | ||
| ENST00000647152.1:c.-90C>T | ENSP00000495893.1:n.-90C>T | |
| ENST00000647209.1:c.*509C>T | ENSP00000495558.1:n.*509C>T | |
| ENST00000647346.1:n.1660C>T | ||
| ENST00000299427.10:c.640C>T | ENSP00000299427.6:p.Gln214Ter | |
| ENST00000428886.6:n.809C>T | ||
| ENST00000436873.6:c.450+337C>T | ENSP00000398136.2:n.450+337C>T | |
| ENST00000524788.1:n.340C>T | ||
| ENST00000528571.5:c.*380C>T | ENSP00000434647.1:n.*380C>T | |
| ENST00000528807.1:n.190C>T | ||
| ENST00000533371.5:c.-90C>T | ENSP00000437066.1:n.-90C>T | |
| ENST00000534644.5:n.625C>T | ||
| ENST00000611494.4:c.640C>T | ENSP00000484546.1:p.Gln214Ter | |
| NM_000391.3:c.640C>T | NP_000382.3:p.Gln214Ter | |
| NM_000391.4:c.640C>T MANE Select | NP_000382.3:p.Gln214Ter |