Linked Data
ClinVar Variation Id:
3193
ClinVar RCV Id:
RCV000003344
dbSNP Id:
rs120074165
PubMed:
PMID:19005420
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49118866A>G , CM000680.2:g.49118866A>G | GRCh38 |
| NC_000018.9:g.46645236A>G , CM000680.1:g.46645236A>G | GRCh37 |
| NC_000018.8:g.44899234A>G | NCBI36 |
| NG_009239.1:g.346844T>C | |
| NG_009239.2:g.346868T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675505.1:c.1789T>C MANE Select | ENSP00000501694.1:p.Cys597Arg | |
| ENST00000269445.10:c.1624T>C | ENSP00000269445.6:p.Cys542Arg | |
| ENST00000442713.6:c.1054T>C | ENSP00000395942.2:p.Cys352Arg | |
| NM_017653.3:c.1624T>C | NP_060123.3:p.Cys542Arg | |
| XM_006722488.2:c.1624T>C | XP_006722551.1:p.Cys542Arg | |
| XM_006722490.2:c.1624T>C | XP_006722553.1:p.Cys542Arg | |
| XM_011526036.1:c.1624T>C | XP_011524338.1:p.Cys542Arg | |
| XM_011526037.1:c.1621T>C | XP_011524339.1:p.Cys541Arg | |
| XM_011526038.1:c.1621T>C | XP_011524340.1:p.Cys541Arg | |
| XM_011526039.1:c.1624T>C | XP_011524341.1:p.Cys542Arg | |
| XM_011526040.1:c.1456T>C | XP_011524342.1:p.Cys486Arg | |
| XM_011526041.1:c.1564-21351T>C | XP_011524343.1:n.1564-21351T>C | |
| XM_011526042.1:c.1624T>C | XP_011524344.1:p.Cys542Arg | |
| XM_011526043.1:c.1624T>C | XP_011524345.1:p.Cys542Arg | |
| NM_001353210.1:c.1621T>C | NP_001340139.1:p.Cys541Arg | |
| NM_001353211.1:c.1621T>C | NP_001340140.1:p.Cys541Arg | |
| NM_001353212.1:c.1786T>C | NP_001340141.1:p.Cys596Arg | |
| NM_001353213.1:c.1786T>C | NP_001340142.1:p.Cys596Arg | |
| NM_001353214.1:c.1789T>C | NP_001340143.1:p.Cys597Arg | |
| NM_001353215.1:c.1729-21351T>C | NP_001340144.1:n.1729-21351T>C | |
| NM_001353216.1:c.1564-21351T>C | NP_001340145.1:n.1564-21351T>C | |
| NM_017653.4:c.1624T>C | NP_060123.3:p.Cys542Arg | |
| XM_006722488.3:c.1624T>C | XP_006722551.1:p.Cys542Arg | |
| XM_011526036.2:c.1624T>C | XP_011524338.1:p.Cys542Arg | |
| XM_011526038.2:c.1621T>C | XP_011524340.1:p.Cys541Arg | |
| XM_011526039.2:c.1624T>C | XP_011524341.1:p.Cys542Arg | |
| XM_011526041.2:c.1564-21351T>C | XP_011524343.1:n.1564-21351T>C | |
| XM_011526042.2:c.1624T>C | XP_011524344.1:p.Cys542Arg | |
| XM_017025795.1:c.1618T>C | XP_016881284.1:p.Cys540Arg | |
| XM_017025796.2:c.1444T>C | XP_016881285.1:p.Cys482Arg | |
| XM_017025800.2:c.1561-21351T>C | XP_016881289.1:n.1561-21351T>C | |
| XM_017025801.1:c.1558-21351T>C | XP_016881290.1:n.1558-21351T>C | |
| XR_002958177.1:n.1981T>C | ||
| NM_001353210.3:c.1621T>C | NP_001340139.1:p.Cys541Arg | |
| NM_001353211.3:c.1621T>C | NP_001340140.1:p.Cys541Arg | |
| NM_001353212.3:c.1786T>C | NP_001340141.1:p.Cys596Arg | |
| NM_001353213.3:c.1786T>C | NP_001340142.1:p.Cys596Arg | |
| NM_001353214.3:c.1789T>C MANE Select | NP_001340143.1:p.Cys597Arg | |
| NM_001353215.3:c.1729-21351T>C | NP_001340144.1:n.1729-21351T>C | |
| NM_001353216.3:c.1564-21351T>C | NP_001340145.1:n.1564-21351T>C | |
| NM_001374428.1:c.1789T>C | NP_001361357.1:p.Cys597Arg | |
| NM_001374429.1:c.1783T>C | NP_001361358.1:p.Cys595Arg | |
| NM_001374430.1:c.1789T>C | NP_001361359.1:p.Cys597Arg | |
| NM_001374431.1:c.1789T>C | NP_001361360.1:p.Cys597Arg | |
| NM_001374432.1:c.1663T>C | NP_001361361.1:p.Cys555Arg | |
| NM_001374433.1:c.1624T>C | NP_001361362.1:p.Cys542Arg | |
| NM_001374434.1:c.1624T>C | NP_001361363.1:p.Cys542Arg | |
| NM_001374435.1:c.1621T>C | NP_001361364.1:p.Cys541Arg | |
| NM_001374436.1:c.1498T>C | NP_001361365.1:p.Cys500Arg | |
| NM_001374437.1:c.1441T>C | NP_001361366.1:p.Cys481Arg | |
| NM_001374438.1:c.1561-21351T>C | NP_001361367.1:n.1561-21351T>C | |
| NM_001374439.1:c.1558-21351T>C | NP_001361368.1:n.1558-21351T>C | |
| NM_001374440.1:c.1396T>C | NP_001361369.1:p.Cys466Arg | |
| NM_001374441.1:c.1219T>C | NP_001361370.1:p.Cys407Arg | |
| NM_001374442.1:c.1054T>C | NP_001361371.1:p.Cys352Arg | |
| NM_001374443.1:c.1051T>C | NP_001361372.1:p.Cys351Arg | |
| NM_001374444.1:c.994-21351T>C | NP_001361373.1:n.994-21351T>C | |
| NM_017653.6:c.1624T>C | NP_060123.3:p.Cys542Arg |