Linked Data
ClinVar Variation Id:
260463
dbSNP Id:
rs61730098
ExAC:
10:27326133 T / C
gnomAD v2:
10-27326133-T-C
gnomAD v3:
10-27037204-T-C
gnomAD v4:
10-27037204-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27037204T>C , CM000672.2:g.27037204T>C | GRCh38 |
| NC_000010.10:g.27326133T>C , CM000672.1:g.27326133T>C | GRCh37 |
| NC_000010.9:g.27366139T>C | NCBI36 |
| NG_031973.2:g.68295A>G , LRG_605:g.68295A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376087.5:c.2679A>G MANE Select | ENSP00000365255.4:p.Gln893= | |
| ENST00000436985.7:c.2676A>G | ENSP00000405112.3:p.Gln892= | |
| ENST00000675116.1:c.329A>G | ||
| ENST00000675349.1:n.2408A>G | ||
| ENST00000676232.1:c.2506A>G | ||
| ENST00000676420.1:c.*2496A>G | ENSP00000502355.1:n.*2496A>G | |
| ENST00000376087.4:c.2679A>G | ENSP00000365255.4:p.Gln893= | |
| ENST00000436985.6:c.2727A>G | ENSP00000405112.2:p.Gln909= | |
| NM_001256053.1:c.2676A>G | NP_001242982.1:p.Gln892= | |
| NM_014915.2:c.2679A>G , LRG_605t1:c.2679A>G | NP_055730.2:p.Gln893= | |
| XM_006717423.2:c.3765A>G | XP_006717486.1:p.Gln1255= | |
| XM_006717424.2:c.3762A>G | XP_006717487.1:p.Gln1254= | |
| XM_006717425.2:c.3765A>G | XP_006717488.1:p.Gln1255= | |
| XM_006717427.2:c.2922A>G | XP_006717490.1:p.Gln974= | |
| XM_006717428.2:c.2580A>G | XP_006717491.1:p.Gln860= | |
| XM_011519415.1:c.3753A>G | XP_011517717.1:p.Gln1251= | |
| XM_011519416.1:c.3765A>G | XP_011517718.1:p.Gln1255= | |
| XM_011519417.1:c.3765A>G | XP_011517719.1:p.Gln1255= | |
| XM_011519418.1:c.3765A>G | XP_011517720.1:p.Gln1255= | |
| XM_011519419.1:c.3666A>G | XP_011517721.1:p.Gln1222= | |
| XM_011519420.1:c.3765A>G | XP_011517722.1:p.Gln1255= | |
| XM_011519421.1:c.2922A>G | XP_011517723.1:p.Gln974= | |
| XM_011519422.1:c.3765A>G | XP_011517724.1:p.Gln1255= | |
| XM_011519423.1:c.2922A>G | XP_011517725.1:p.Gln974= | |
| XM_011519424.1:c.2379A>G | XP_011517726.1:p.Gln793= | |
| XM_011519425.1:c.3765A>G | XP_011517727.1:p.Gln1255= | |
| XR_930483.1:n.3937A>G | ||
| XR_930484.1:n.3937A>G | ||
| XM_006717425.4:c.3765A>G | XP_006717488.1:p.Gln1255= | |
| XM_011519416.2:c.3765A>G | XP_011517718.1:p.Gln1255= | |
| XM_017015928.1:c.3765A>G | XP_016871417.1:p.Gln1255= | |
| XM_017015929.1:c.3753A>G | XP_016871418.1:p.Gln1251= | |
| XM_017015930.1:c.3765A>G | XP_016871419.1:p.Gln1255= | |
| XM_017015931.1:c.3765A>G | XP_016871420.1:p.Gln1255= | |
| XM_017015932.1:c.3765A>G | XP_016871421.1:p.Gln1255= | |
| XM_017015933.1:c.3765A>G | XP_016871422.1:p.Gln1255= | |
| NM_001256053.2:c.2676A>G | NP_001242982.1:p.Gln892= | |
| NM_014915.3:c.2679A>G MANE Select | NP_055730.2:p.Gln893= |