Linked Data
ClinVar Variation Id:
646653
dbSNP Id:
rs1326646704
gnomAD v2:
11-6638084-C-T
gnomAD v4:
11-6616853-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616853C>T , CM000673.2:g.6616853C>T | GRCh38 |
| NC_000011.9:g.6638084C>T , CM000673.1:g.6638084C>T | GRCh37 |
| NC_000011.8:g.6594660C>T | NCBI36 |
| NG_008653.1:g.7609G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.580G>A | ENSP00000507321.1:p.Glu194Lys | |
| ENST00000299427.12:c.694G>A MANE Select | ENSP00000299427.6:p.Glu232Lys | |
| ENST00000436873.7:c.312+448G>A | ||
| ENST00000524788.2:n.1853G>A | ||
| ENST00000524903.2:n.1969G>A | ||
| ENST00000528807.2:n.350G>A | ||
| ENST00000530040.2:n.480-350G>A | ||
| ENST00000533371.6:c.-36G>A | ENSP00000437066.1:n.-36G>A | |
| ENST00000642892.1:c.-36G>A | ENSP00000494165.1:n.-36G>A | |
| ENST00000643439.1:c.*434G>A | ENSP00000495849.1:n.*434G>A | |
| ENST00000643479.1:n.723G>A | ||
| ENST00000643516.1:c.396-350G>A | ||
| ENST00000644151.1:n.2133G>A | ||
| ENST00000644218.1:c.694G>A | ENSP00000493574.1:p.Glu232Lys | |
| ENST00000644683.1:c.*147G>A | ENSP00000494085.1:n.*147G>A | |
| ENST00000644810.1:c.415G>A | ENSP00000495895.1:p.Glu139Lys | |
| ENST00000644831.1:n.870G>A | ||
| ENST00000644933.1:c.-36G>A | ENSP00000496133.1:n.-36G>A | |
| ENST00000645020.1:n.1984G>A | ||
| ENST00000645285.1:c.-36G>A | ENSP00000495058.1:n.-36G>A | |
| ENST00000645331.1:n.1060G>A | ||
| ENST00000645620.1:c.-36G>A | ENSP00000493657.1:n.-36G>A | |
| ENST00000646777.1:n.870G>A | ||
| ENST00000647016.1:n.1174G>A | ||
| ENST00000647152.1:c.-36G>A | ENSP00000495893.1:n.-36G>A | |
| ENST00000647209.1:c.*563G>A | ENSP00000495558.1:n.*563G>A | |
| ENST00000647346.1:n.1714G>A | ||
| ENST00000299427.10:c.694G>A | ENSP00000299427.6:p.Glu232Lys | |
| ENST00000436873.6:c.451-350G>A | ENSP00000398136.2:n.451-350G>A | |
| ENST00000524788.1:n.394G>A | ||
| ENST00000528807.1:n.244G>A | ||
| ENST00000533371.5:c.-36G>A | ENSP00000437066.1:n.-36G>A | |
| ENST00000611494.4:c.694G>A | ENSP00000484546.1:p.Glu232Lys | |
| NM_000391.3:c.694G>A | NP_000382.3:p.Glu232Lys | |
| NM_000391.4:c.694G>A MANE Select | NP_000382.3:p.Glu232Lys |