Linked Data
ClinVar Variation Id:
299723
ClinVar RCV Id:
RCV000319073
dbSNP Id:
rs886046942
gnomAD v3:
10-27005448-C-T
gnomAD v4:
10-27005448-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27005448C>T , CM000672.2:g.27005448C>T | GRCh38 |
| NC_000010.10:g.27294377C>T , CM000672.1:g.27294377C>T | GRCh37 |
| NC_000010.9:g.27334383C>T | NCBI36 |
| NG_031973.2:g.100051G>A , LRG_605:g.100051G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376087.5:c.*142G>A MANE Select | ENSP00000365255.4:n.*142G>A | |
| ENST00000436985.7:c.*142G>A | ENSP00000405112.3:n.*142G>A | |
| ENST00000674670.1:c.489+1469G>A | ||
| ENST00000675116.1:c.3133G>A | ||
| ENST00000675439.1:c.324+1469G>A | ||
| ENST00000675936.1:c.1522+169G>A | ||
| ENST00000676280.1:c.657G>A | ||
| ENST00000376087.4:c.*142G>A | ENSP00000365255.4:n.*142G>A | |
| ENST00000436985.6:c.*142G>A | ENSP00000405112.2:n.*142G>A | |
| ENST00000445828.5:c.562+175G>A | ||
| NM_001256053.1:c.*142G>A | NP_001242982.1:n.*142G>A | |
| NM_014915.2:c.*142G>A , LRG_605t1:c.*142G>A | NP_055730.2:n.*142G>A | |
| XM_006717423.2:c.*142G>A | XP_006717486.1:n.*142G>A | |
| XM_006717424.2:c.*142G>A | XP_006717487.1:n.*142G>A | |
| XM_006717425.2:c.6085+1469G>A | XP_006717488.1:n.6085+1469G>A | |
| XM_006717427.2:c.*142G>A | XP_006717490.1:n.*142G>A | |
| XM_006717428.2:c.*142G>A | XP_006717491.1:n.*142G>A | |
| XM_011519415.1:c.*142G>A | XP_011517717.1:n.*142G>A | |
| XM_011519416.1:c.6085+1469G>A | XP_011517718.1:n.6085+1469G>A | |
| XM_011519417.1:c.6085+1469G>A | XP_011517719.1:n.6085+1469G>A | |
| XM_011519418.1:c.6085+1469G>A | XP_011517720.1:n.6085+1469G>A | |
| XM_011519419.1:c.*142G>A | XP_011517721.1:n.*142G>A | |
| XM_011519420.1:c.*142G>A | XP_011517722.1:n.*142G>A | |
| XM_011519421.1:c.*142G>A | XP_011517723.1:n.*142G>A | |
| XM_011519423.1:c.*142G>A | XP_011517725.1:n.*142G>A | |
| XM_011519424.1:c.*142G>A | XP_011517726.1:n.*142G>A | |
| XR_930483.1:n.6257+1469G>A | ||
| XR_930484.1:n.6257+1469G>A | ||
| XM_006717425.4:c.6085+1469G>A | XP_006717488.1:n.6085+1469G>A | |
| XM_011519416.2:c.6085+1469G>A | XP_011517718.1:n.6085+1469G>A | |
| XM_017015928.1:c.6085+1469G>A | XP_016871417.1:n.6085+1469G>A | |
| XM_017015929.1:c.6073+1469G>A | XP_016871418.1:n.6073+1469G>A | |
| XM_017015930.1:c.6085+1469G>A | XP_016871419.1:n.6085+1469G>A | |
| XM_017015931.1:c.6085+1469G>A | XP_016871420.1:n.6085+1469G>A | |
| XM_017015932.1:c.6085+1469G>A | XP_016871421.1:n.6085+1469G>A | |
| XM_017015933.1:c.*1598G>A | XP_016871422.1:n.*1598G>A | |
| NM_001256053.2:c.*142G>A | NP_001242982.1:n.*142G>A | |
| NM_014915.3:c.*142G>A MANE Select | NP_055730.2:n.*142G>A |