Linked Data
ClinVar Variation Id:
1518511
ClinVar RCV Id:
RCV002021798
dbSNP Id:
rs779891202
gnomAD v2:
19-1106447-G-C
gnomAD v4:
19-1106448-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106448G>C , CM000681.2:g.1106448G>C | GRCh38 |
| NC_000019.9:g.1106447G>C , CM000681.1:g.1106447G>C | GRCh37 |
| NC_000019.8:g.1057447G>C | NCBI36 |
| NG_050621.1:g.7523G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.661G>C | ENSP00000473614.3:p.Glu221Gln | |
| ENST00000593032.6:c.530G>C | ENSP00000465828.4:p.Gly177Ala | |
| ENST00000706713.1:c.544G>C | ENSP00000516510.1:p.Glu182Gln | |
| ENST00000706714.1:c.530G>C | ENSP00000516511.1:p.Gly177Ala | |
| ENST00000706715.1:c.166G>C | ENSP00000516512.1:p.Glu56Gln | |
| ENST00000354171.13:c.550G>C MANE Select | ENSP00000346103.7:p.Glu184Gln | |
| ENST00000589115.6:c.525G>C | ENSP00000466872.3:p.Trp175Cys | |
| ENST00000354171.12:c.550G>C | ENSP00000346103.7:p.Glu184Gln | |
| ENST00000585480.1:c.283G>C | ENSP00000467900.1:p.Glu95Gln | |
| ENST00000587648.5:c.430G>C | ENSP00000468349.1:p.Glu144Gln | |
| ENST00000588919.5:c.491G>C | ENSP00000464989.3:p.Gly164Ala | |
| ENST00000589115.5:c.525G>C | ENSP00000466872.2:p.Trp175Cys | |
| ENST00000592940.2:n.921G>C | ||
| ENST00000611653.4:c.469G>C | ENSP00000483655.1:p.Glu157Gln | |
| ENST00000616066.4:c.547G>C | ENSP00000485000.1:p.Glu183Gln | |
| ENST00000622390.4:c.658G>C | ENSP00000477503.1:p.Glu220Gln | |
| NM_001039847.2:c.572G>C | NP_001034936.1:p.Gly191Ala | |
| NM_001039848.2:c.661G>C | NP_001034937.1:p.Glu221Gln | |
| NM_002085.4:c.550G>C | NP_002076.2:p.Glu184Gln | |
| NM_001039848.3:c.661G>C | NP_001034937.1:p.Glu221Gln | |
| NM_001039847.3:c.572G>C | NP_001034936.1:p.Gly191Ala | |
| NM_001039848.4:c.661G>C | NP_001034937.1:p.Glu221Gln | |
| NM_001367832.1:c.469G>C | NP_001354761.1:p.Glu157Gln | |
| NM_002085.5:c.550G>C MANE Select | NP_002076.2:p.Glu184Gln |