Linked Data
ClinVar Variation Id:
134480
dbSNP Id:
rs148033592
ExAC:
20:57429696 C / G
gnomAD v2:
20-57429696-C-G
gnomAD v3:
20-58854641-C-G
gnomAD v4:
20-58854641-C-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58854641C>G , CM000682.2:g.58854641C>G | GRCh38 |
| NC_000020.10:g.57429696C>G , CM000682.1:g.57429696C>G | GRCh37 |
| NC_000020.9:g.56863091C>G | NCBI36 |
| NG_016194.1:g.19902C>G | |
| NG_021433.1:g.1263G>C | |
| NG_016194.2:g.19902C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.1376C>G | ENSP00000265621.6:p.Pro459Arg | |
| ENST00000419558.7:c.*42+13755C>G | ENSP00000416234.2:n.*42+13755C>G | |
| ENST00000423897.7:c.1376C>G | ENSP00000412356.2:p.Pro459Arg | |
| ENST00000453292.7:c.780+13755C>G | ENSP00000392000.2:n.780+13755C>G | |
| ENST00000462499.6:c.-39+12766C>G | ENSP00000499758.2:n.-39+12766C>G | |
| ENST00000464624.7:c.1376C>G | ENSP00000499607.2:p.Pro459Arg | |
| ENST00000467227.6:c.-39+10567C>G | ENSP00000499681.2:n.-39+10567C>G | |
| ENST00000472183.6:c.-39+12766C>G | ENSP00000499673.2:n.-39+12766C>G | |
| ENST00000482112.6:c.-39+12766C>G | ENSP00000499794.2:n.-39+12766C>G | |
| ENST00000663479.2:c.-39+12766C>G | ENSP00000499353.2:n.-39+12766C>G | |
| ENST00000676826.2:c.1376C>G | ENSP00000504675.2:p.Pro459Arg | |
| ENST00000306090.12:c.43+13755C>G | ENSP00000304472.12:n.43+13755C>G | |
| ENST00000306120.4:c.1381C>G | ENSP00000302237.4:p.Leu461Val | |
| ENST00000349036.8:c.1376C>G | ENSP00000265621.5:p.Pro459Arg | |
| ENST00000371100.9:c.1376C>G MANE Plus Clinical | ENSP00000360141.3:p.Pro459Arg | |
| ENST00000419558.6:c.*42+13755C>G | ENSP00000416234.2:n.*42+13755C>G | |
| ENST00000423897.6:c.1376C>G | ENSP00000412356.2:p.Pro459Arg | |
| ENST00000453292.6:c.*42+13755C>G | ENSP00000392000.2:n.*42+13755C>G | |
| ENST00000481768.6:c.1376C>G | ENSP00000499644.2:p.Pro459Arg | |
| ENST00000490374.6:n.222+12766C>G | ||
| ENST00000657090.1:c.-39+14701C>G | ENSP00000499380.1:n.-39+14701C>G | |
| ENST00000663479.1:c.-39+12766C>G | ENSP00000499353.1:n.-39+12766C>G | |
| ENST00000667293.1:c.10+13755C>G | ENSP00000499293.1:n.10+13755C>G | |
| ENST00000676826.1:c.1376C>G | ENSP00000504675.1:p.Pro459Arg | |
| ENST00000306120.3:c.1186C>G | ENSP00000302237.3:p.Leu396Val | |
| ENST00000313949.11:c.*42+13755C>G | ENSP00000323571.7:n.*42+13755C>G | |
| ENST00000371075.7:c.*42+13755C>G MANE Plus Clinical | ENSP00000360115.3:n.*42+13755C>G | |
| ENST00000371098.6:c.*42+13755C>G | ENSP00000360139.2:n.*42+13755C>G | |
| ENST00000371099.6:c.1376C>G | ENSP00000360140.2:p.Pro459Arg | |
| ENST00000371100.8:c.1376C>G | ENSP00000360141.3:p.Pro459Arg | |
| ENST00000371102.8:c.1376C>G | ENSP00000360143.4:p.Pro459Arg | |
| ENST00000419558.5:c.383+13755C>G | ||
| ENST00000453292.5:c.543+13755C>G | ENSP00000392000.1:n.543+13755C>G | |
| ENST00000462499.5:n.258+12766C>G | ||
| ENST00000464624.6:n.1379C>G | ||
| ENST00000467227.5:n.122+10567C>G | ||
| ENST00000472183.5:n.391+12766C>G | ||
| ENST00000481768.5:n.473C>G | ||
| ENST00000482112.5:n.258+12766C>G | ||
| ENST00000490374.5:n.254+12766C>G | ||
| ENST00000491348.5:n.533+12766C>G | ||
| ENST00000493744.5:n.232+12766C>G | ||
| NM_001077490.1:c.1189C>G | NP_001070958.1:p.Leu397Val | |
| NM_001077490.2:c.1189C>G | NP_001070958.1:p.Leu397Val | |
| NM_001309861.1:c.-39+12766C>G | NP_001296790.1:n.-39+12766C>G | |
| NM_001309883.1:c.1189C>G | NP_001296812.1:p.Leu397Val | |
| NM_016592.2:c.*42+13755C>G | NP_057676.1:n.*42+13755C>G | |
| NM_016592.3:c.*42+13755C>G | NP_057676.1:n.*42+13755C>G | |
| NM_080425.2:c.1376C>G | NP_536350.2:p.Pro459Arg | |
| NM_080425.3:c.1376C>G | NP_536350.2:p.Pro459Arg | |
| XM_017027812.2:c.1376C>G | XP_016883301.1:p.Pro459Arg | |
| XM_017027813.2:c.1376C>G | XP_016883302.1:p.Pro459Arg | |
| XM_017027814.2:c.1376C>G | XP_016883303.1:p.Pro459Arg | |
| XM_017027815.1:c.43+13755C>G | XP_016883304.1:n.43+13755C>G | |
| XM_017027821.1:c.*42+13755C>G | XP_016883310.1:n.*42+13755C>G | |
| XM_017027822.1:c.*42+13755C>G | XP_016883311.1:n.*42+13755C>G | |
| XM_024451872.1:c.43+13755C>G | XP_024307640.1:n.43+13755C>G | |
| NM_001309861.2:c.-39+12766C>G | NP_001296790.1:n.-39+12766C>G | |
| NM_016592.4:c.*42+13755C>G | NP_057676.1:n.*42+13755C>G | |
| NM_001077490.3:c.1189C>G | NP_001070958.1:p.Leu397Val | |
| NM_016592.5:c.*42+13755C>G MANE Plus Clinical | NP_057676.1:n.*42+13755C>G | |
| NM_080425.4:c.1376C>G MANE Plus Clinical | NP_536350.2:p.Pro459Arg |