Linked Data
ClinVar Variation Id:
120249
dbSNP Id:
rs483352826
ExAC:
2:39240630 C / T
gnomAD v2:
2-39240630-C-T
gnomAD v3:
2-39013489-C-T
gnomAD v4:
2-39013489-C-T
COSMIC:
COSM4852285
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39013489C>T , CM000664.2:g.39013489C>T | GRCh38 |
| NC_000002.11:g.39240630C>T , CM000664.1:g.39240630C>T | GRCh37 |
| NC_000002.10:g.39094134C>T | NCBI36 |
| NG_007530.1:g.111975G>A , LRG_754:g.111975G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.905G>A | ENSP00000509424.1:p.Arg302Gln | |
| ENST00000688043.1:n.2359G>A | ||
| ENST00000689668.1:n.2145G>A | ||
| ENST00000690514.1:n.227G>A | ||
| ENST00000690876.1:c.2027G>A | ENSP00000508955.1:p.Arg676Gln | |
| ENST00000691229.1:c.2027G>A | ENSP00000510437.1:p.Arg676Gln | |
| ENST00000692089.1:c.2027G>A | ENSP00000508626.1:p.Arg676Gln | |
| ENST00000692620.1:c.905G>A | ENSP00000509311.1:p.Arg302Gln | |
| ENST00000402219.8:c.2138G>A MANE Select | ENSP00000384675.2:p.Arg713Gln | |
| ENST00000395038.6:c.2138G>A | ENSP00000378479.2:p.Arg713Gln | |
| ENST00000402219.6:c.2138G>A | ENSP00000384675.2:p.Arg713Gln | |
| ENST00000426016.5:c.2138G>A | ENSP00000387784.1:p.Arg713Gln | |
| NM_005633.3:c.2138G>A , LRG_754t1:c.2138G>A | NP_005624.2:p.Arg713Gln | |
| XM_005264515.3:c.2138G>A | XP_005264572.1:p.Arg713Gln | |
| XM_011533060.1:c.2231G>A | XP_011531362.1:p.Arg744Gln | |
| XM_011533061.1:c.2231G>A | XP_011531363.1:p.Arg744Gln | |
| XM_011533062.1:c.2117G>A | XP_011531364.1:p.Arg706Gln | |
| XM_011533063.1:c.2114G>A | XP_011531365.1:p.Arg705Gln | |
| XM_011533064.1:c.1967G>A | XP_011531366.1:p.Arg656Gln | |
| XM_011533065.1:c.2231G>A | XP_011531367.1:p.Arg744Gln | |
| XM_011533066.1:c.1073G>A | XP_011531368.1:p.Arg358Gln | |
| XM_005264515.4:c.2138G>A | XP_005264572.1:p.Arg713Gln | |
| XM_011533062.2:c.2117G>A | XP_011531364.1:p.Arg706Gln | |
| XM_011533064.2:c.1967G>A | XP_011531366.1:p.Arg656Gln | |
| NM_001382394.1:c.2117G>A | NP_001369323.1:p.Arg706Gln | |
| NM_001382395.1:c.2138G>A | NP_001369324.1:p.Arg713Gln | |
| NM_005633.4:c.2138G>A MANE Select | NP_005624.2:p.Arg713Gln |