Linked Data
ClinVar Variation Id:
14286
ClinVar RCV Id:
RCV000015356
dbSNP Id:
rs121913580
ExAC:
1:237015878 C / T
gnomAD v2:
1-237015878-C-T
gnomAD v3:
1-236852578-C-T
gnomAD v4:
1-236852578-C-T
PubMed:
PMID:12068375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236852578C>T , CM000663.2:g.236852578C>T | GRCh38 |
| NC_000001.10:g.237015878C>T , CM000663.1:g.237015878C>T | GRCh37 |
| NC_000001.9:g.235082501C>T | NCBI36 |
| NG_008959.1:g.62298C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366577.10:c.1753C>T MANE Select | ENSP00000355536.5:p.Arg585Ter | |
| ENST00000535889.6:c.1753C>T | ENSP00000441845.1:p.Arg585Ter | |
| ENST00000650888.1:c.*795C>T | ENSP00000498393.1:n.*795C>T | |
| ENST00000651455.1:c.*497C>T | ENSP00000498963.1:n.*497C>T | |
| ENST00000674797.2:c.1405C>T | ENSP00000502299.2:p.Arg469Ter | |
| ENST00000679569.1:n.2067C>T | ||
| ENST00000679842.1:c.1753C>T | ENSP00000506109.1:p.Arg585Ter | |
| ENST00000680454.1:n.2197C>T | ||
| ENST00000681102.1:c.1573C>T | ENSP00000505600.1:p.Arg525Ter | |
| ENST00000681177.1:c.1516-7255C>T | ENSP00000506327.1:n.1516-7255C>T | |
| ENST00000681937.1:n.2148-7255C>T | ||
| ENST00000366576.3:c.415C>T | ENSP00000355535.3:p.Arg139Ter | |
| ENST00000366577.9:c.1753C>T | ENSP00000355536.5:p.Arg585Ter | |
| ENST00000463959.1:n.1772C>T | ||
| ENST00000535889.5:c.1753C>T | ENSP00000441845.1:p.Arg585Ter | |
| NM_000254.2:c.1753C>T | NP_000245.2:p.Arg585Ter | |
| NM_001291939.1:c.1753C>T | NP_001278868.1:p.Arg585Ter | |
| NM_001291940.1:c.532C>T | NP_001278869.1:p.Arg178Ter | |
| XM_005273141.3:c.1750C>T | XP_005273198.1:p.Arg584Ter | |
| XM_006711769.2:c.1753C>T | XP_006711832.1:p.Arg585Ter | |
| XM_006711770.1:c.817C>T | XP_006711833.1:p.Arg273Ter | |
| XM_011544193.1:c.1753C>T | XP_011542495.1:p.Arg585Ter | |
| XM_011544194.1:c.1921C>T | XP_011542496.1:p.Arg641Ter | |
| XM_005273141.5:c.1750C>T | XP_005273198.1:p.Arg584Ter | |
| XM_006711770.3:c.817C>T | XP_006711833.1:p.Arg273Ter | |
| XM_011544194.3:c.1921C>T | XP_011542496.1:p.Arg641Ter | |
| XM_017001329.2:c.1921C>T | XP_016856818.1:p.Arg641Ter | |
| XM_017001330.2:c.1921C>T | XP_016856819.1:p.Arg641Ter | |
| NM_001291940.2:c.532C>T | NP_001278869.1:p.Arg178Ter | |
| NM_000254.3:c.1753C>T MANE Select | NP_000245.2:p.Arg585Ter |