Linked Data
ClinVar Variation Id:
139540
ClinVar RCV Id:
RCV000128439
dbSNP Id:
rs587777486
gnomAD v2:
12-94806146-G-A
gnomAD v3:
12-94412370-G-A
gnomAD v4:
12-94412370-G-A
PubMed:
PMID:24882706
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.94412370G>A , CM000674.2:g.94412370G>A | GRCh38 |
| NC_000012.11:g.94806146G>A , CM000674.1:g.94806146G>A | GRCh37 |
| NC_000012.10:g.93330277G>A | NCBI36 |
| NG_051825.1:g.52619C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397809.10:c.121C>T MANE Select | ENSP00000380911.4:p.Arg41Ter | |
| ENST00000339839.9:c.121C>T | ENSP00000344655.5:p.Arg41Ter | |
| ENST00000397807.6:c.-267C>T | ENSP00000380909.3:n.-267C>T | |
| ENST00000397809.9:c.121C>T | ENSP00000380911.4:p.Arg41Ter | |
| ENST00000547232.5:c.22C>T | ENSP00000447783.1:p.Arg8Ter | |
| ENST00000547575.5:c.121C>T | ENSP00000448913.1:p.Arg41Ter | |
| ENST00000551596.1:n.143C>T | ||
| NM_001042399.1:c.121C>T | NP_001035858.1:p.Arg41Ter | |
| NM_016122.2:c.121C>T | NP_057206.2:p.Arg41Ter | |
| XM_005268942.1:c.121C>T | XP_005268999.1:p.Arg41Ter | |
| XM_006719437.1:c.121C>T | XP_006719500.1:p.Arg41Ter | |
| XM_011538424.1:c.121C>T | XP_011536726.1:p.Arg41Ter | |
| XM_011538425.1:c.121C>T | XP_011536727.1:p.Arg41Ter | |
| XM_011538426.1:c.121C>T | XP_011536728.1:p.Arg41Ter | |
| XM_011538427.1:c.-140+147C>T | XP_011536729.1:n.-140+147C>T | |
| XM_011538430.1:c.121C>T | XP_011536732.1:p.Arg41Ter | |
| XR_944562.1:n.648C>T | ||
| XR_944563.1:n.648C>T | ||
| XR_944564.1:n.648C>T | ||
| XR_944565.1:n.648C>T | ||
| XR_944566.1:n.648C>T | ||
| XR_944567.1:n.648C>T | ||
| XR_944568.1:n.648C>T | ||
| XR_944569.1:n.648C>T | ||
| NM_001346457.1:c.121C>T | NP_001333386.1:p.Arg41Ter | |
| NM_001346458.1:c.-140+147C>T | NP_001333387.1:n.-140+147C>T | |
| NM_001346459.1:c.-140+147C>T | NP_001333388.1:n.-140+147C>T | |
| NM_001346460.1:c.121C>T | NP_001333389.1:p.Arg41Ter | |
| NM_001346461.1:c.121C>T | NP_001333390.1:p.Arg41Ter | |
| NM_001346462.1:c.-140+147C>T | NP_001333391.1:n.-140+147C>T | |
| NR_144441.1:n.560+147C>T | ||
| XM_011538424.2:c.121C>T | XP_011536726.1:p.Arg41Ter | |
| XM_017019385.2:c.121C>T | XP_016874874.1:p.Arg41Ter | |
| XM_017019386.2:c.121C>T | XP_016874875.1:p.Arg41Ter | |
| XM_017019388.1:c.-1960C>T | XP_016874877.1:n.-1960C>T | |
| XM_017019389.2:c.-274+147C>T | XP_016874878.1:n.-274+147C>T | |
| XM_024449002.1:c.121C>T | XP_024304770.1:p.Arg41Ter | |
| XM_024449003.1:c.-1132+147C>T | XP_024304771.1:n.-1132+147C>T | |
| XM_024449005.1:c.-462+147C>T | XP_024304773.1:n.-462+147C>T | |
| XM_024449006.1:c.-686+147C>T | XP_024304774.1:n.-686+147C>T | |
| XM_024449007.1:c.-745+147C>T | XP_024304775.1:n.-745+147C>T | |
| XR_001748731.2:n.670C>T | ||
| XR_001748732.2:n.670C>T | ||
| XR_001748733.2:n.670C>T | ||
| XR_001748734.2:n.670C>T | ||
| XR_001748735.2:n.670C>T | ||
| XR_001748736.2:n.670C>T | ||
| XR_001748737.2:n.670C>T | ||
| XR_001748739.2:n.670C>T | ||
| XR_002957332.1:n.670C>T | ||
| XR_002957333.1:n.1135+147C>T | ||
| NM_001346457.2:c.121C>T | NP_001333386.1:p.Arg41Ter | |
| NM_001346460.2:c.121C>T | NP_001333389.1:p.Arg41Ter | |
| NM_001346461.2:c.121C>T | NP_001333390.1:p.Arg41Ter | |
| NM_001346462.2:c.-140+147C>T | NP_001333391.1:n.-140+147C>T | |
| NM_001368037.1:c.121C>T | NP_001354966.1:p.Arg41Ter | |
| NM_001368038.1:c.121C>T | NP_001354967.1:p.Arg41Ter | |
| NM_001368039.1:c.-140+147C>T | NP_001354968.1:n.-140+147C>T | |
| NM_001368040.1:c.-140+147C>T | NP_001354969.1:n.-140+147C>T | |
| NM_001368041.1:c.121C>T | NP_001354970.1:p.Arg41Ter | |
| NM_001368042.1:c.-140+147C>T | NP_001354971.1:n.-140+147C>T | |
| NM_016122.3:c.121C>T MANE Select | NP_057206.2:p.Arg41Ter | |
| NR_144441.2:n.439+147C>T | ||
| NR_160431.1:n.439+147C>T | ||
| NR_160432.1:n.533C>T | ||
| NM_001042399.2:c.121C>T | NP_001035858.1:p.Arg41Ter | |
| NM_001346458.2:c.-140+147C>T | NP_001333387.1:n.-140+147C>T | |
| NM_001346459.2:c.-140+147C>T | NP_001333388.1:n.-140+147C>T |