Linked Data
ClinVar Variation Id:
134496
dbSNP Id:
rs552813440
ExAC:
20:57429782 G / A
gnomAD v2:
20-57429782-G-A
gnomAD v3:
20-58854727-G-A
gnomAD v4:
20-58854727-G-A
COSMIC:
COSM4755964
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58854727G>A , CM000682.2:g.58854727G>A | GRCh38 |
| NC_000020.10:g.57429782G>A , CM000682.1:g.57429782G>A | GRCh37 |
| NC_000020.9:g.56863177G>A | NCBI36 |
| NG_016194.1:g.19988G>A | |
| NG_021433.1:g.1177C>T | |
| NG_016194.2:g.19988G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.1462G>A | ENSP00000265621.6:p.Ala488Thr | |
| ENST00000419558.7:c.*42+13841G>A | ENSP00000416234.2:n.*42+13841G>A | |
| ENST00000423897.7:c.1462G>A | ENSP00000412356.2:p.Ala488Thr | |
| ENST00000453292.7:c.780+13841G>A | ENSP00000392000.2:n.780+13841G>A | |
| ENST00000462499.6:c.-39+12852G>A | ENSP00000499758.2:n.-39+12852G>A | |
| ENST00000464624.7:c.1462G>A | ENSP00000499607.2:p.Ala488Thr | |
| ENST00000467227.6:c.-39+10653G>A | ENSP00000499681.2:n.-39+10653G>A | |
| ENST00000472183.6:c.-39+12852G>A | ENSP00000499673.2:n.-39+12852G>A | |
| ENST00000482112.6:c.-39+12852G>A | ENSP00000499794.2:n.-39+12852G>A | |
| ENST00000663479.2:c.-39+12852G>A | ENSP00000499353.2:n.-39+12852G>A | |
| ENST00000676826.2:c.1462G>A | ENSP00000504675.2:p.Ala488Thr | |
| ENST00000306090.12:c.43+13841G>A | ENSP00000304472.12:n.43+13841G>A | |
| ENST00000306120.4:c.1467G>A | ENSP00000302237.4:p.Ser489= | |
| ENST00000349036.8:c.1462G>A | ENSP00000265621.5:p.Ala488Thr | |
| ENST00000371100.9:c.1462G>A MANE Plus Clinical | ENSP00000360141.3:p.Ala488Thr | |
| ENST00000419558.6:c.*42+13841G>A | ENSP00000416234.2:n.*42+13841G>A | |
| ENST00000423897.6:c.1462G>A | ENSP00000412356.2:p.Ala488Thr | |
| ENST00000453292.6:c.*42+13841G>A | ENSP00000392000.2:n.*42+13841G>A | |
| ENST00000481768.6:c.1462G>A | ENSP00000499644.2:p.Ala488Thr | |
| ENST00000490374.6:n.222+12852G>A | ||
| ENST00000657090.1:c.-39+14787G>A | ENSP00000499380.1:n.-39+14787G>A | |
| ENST00000663479.1:c.-39+12852G>A | ENSP00000499353.1:n.-39+12852G>A | |
| ENST00000667293.1:c.10+13841G>A | ENSP00000499293.1:n.10+13841G>A | |
| ENST00000676826.1:c.1462G>A | ENSP00000504675.1:p.Ala488Thr | |
| ENST00000306120.3:c.1272G>A | ENSP00000302237.3:p.Ser424= | |
| ENST00000313949.11:c.*42+13841G>A | ENSP00000323571.7:n.*42+13841G>A | |
| ENST00000371075.7:c.*42+13841G>A MANE Plus Clinical | ENSP00000360115.3:n.*42+13841G>A | |
| ENST00000371098.6:c.*42+13841G>A | ENSP00000360139.2:n.*42+13841G>A | |
| ENST00000371099.6:c.1462G>A | ENSP00000360140.2:p.Ala488Thr | |
| ENST00000371100.8:c.1462G>A | ENSP00000360141.3:p.Ala488Thr | |
| ENST00000371102.8:c.1462G>A | ENSP00000360143.4:p.Ala488Thr | |
| ENST00000419558.5:c.383+13841G>A | ||
| ENST00000453292.5:c.543+13841G>A | ENSP00000392000.1:n.543+13841G>A | |
| ENST00000462499.5:n.258+12852G>A | ||
| ENST00000464624.6:n.1465G>A | ||
| ENST00000467227.5:n.122+10653G>A | ||
| ENST00000472183.5:n.391+12852G>A | ||
| ENST00000481768.5:n.559G>A | ||
| ENST00000482112.5:n.258+12852G>A | ||
| ENST00000490374.5:n.254+12852G>A | ||
| ENST00000491348.5:n.533+12852G>A | ||
| ENST00000493744.5:n.232+12852G>A | ||
| NM_001077490.1:c.1275G>A | NP_001070958.1:p.Ser425= | |
| NM_001077490.2:c.1275G>A | NP_001070958.1:p.Ser425= | |
| NM_001309861.1:c.-39+12852G>A | NP_001296790.1:n.-39+12852G>A | |
| NM_001309883.1:c.1275G>A | NP_001296812.1:p.Ser425= | |
| NM_016592.2:c.*42+13841G>A | NP_057676.1:n.*42+13841G>A | |
| NM_016592.3:c.*42+13841G>A | NP_057676.1:n.*42+13841G>A | |
| NM_080425.2:c.1462G>A | NP_536350.2:p.Ala488Thr | |
| NM_080425.3:c.1462G>A | NP_536350.2:p.Ala488Thr | |
| XM_017027812.2:c.1462G>A | XP_016883301.1:p.Ala488Thr | |
| XM_017027813.2:c.1462G>A | XP_016883302.1:p.Ala488Thr | |
| XM_017027814.2:c.1462G>A | XP_016883303.1:p.Ala488Thr | |
| XM_017027815.1:c.43+13841G>A | XP_016883304.1:n.43+13841G>A | |
| XM_017027821.1:c.*42+13841G>A | XP_016883310.1:n.*42+13841G>A | |
| XM_017027822.1:c.*42+13841G>A | XP_016883311.1:n.*42+13841G>A | |
| XM_024451872.1:c.43+13841G>A | XP_024307640.1:n.43+13841G>A | |
| NM_001309861.2:c.-39+12852G>A | NP_001296790.1:n.-39+12852G>A | |
| NM_016592.4:c.*42+13841G>A | NP_057676.1:n.*42+13841G>A | |
| NM_001077490.3:c.1275G>A | NP_001070958.1:p.Ser425= | |
| NM_016592.5:c.*42+13841G>A MANE Plus Clinical | NP_057676.1:n.*42+13841G>A | |
| NM_080425.4:c.1462G>A MANE Plus Clinical | NP_536350.2:p.Ala488Thr |