Linked Data
ClinVar Variation Id:
284211
dbSNP Id:
rs146000214
ExAC:
18:46623854 T / C
gnomAD v2:
18-46623854-T-C
gnomAD v3:
18-49097484-T-C
gnomAD v4:
18-49097484-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49097484T>C , CM000680.2:g.49097484T>C | GRCh38 |
| NC_000018.9:g.46623854T>C , CM000680.1:g.46623854T>C | GRCh37 |
| NC_000018.8:g.44877852T>C | NCBI36 |
| NG_009239.1:g.368226A>G | |
| NG_009239.2:g.368250A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675505.1:c.1943A>G MANE Select | ENSP00000501694.1:p.Gln648Arg | |
| ENST00000269445.10:c.1778A>G | ENSP00000269445.6:p.Gln593Arg | |
| ENST00000442713.6:c.1208A>G | ENSP00000395942.2:p.Gln403Arg | |
| ENST00000577734.1:c.10A>G | ||
| ENST00000583270.1:n.288A>G | ||
| NM_017653.3:c.1778A>G | NP_060123.3:p.Gln593Arg | |
| XM_006722488.2:c.1778A>G | XP_006722551.1:p.Gln593Arg | |
| XM_006722490.2:c.*71A>G | XP_006722553.1:n.*71A>G | |
| XM_011526036.1:c.1778A>G | XP_011524338.1:p.Gln593Arg | |
| XM_011526037.1:c.1775A>G | XP_011524339.1:p.Gln592Arg | |
| XM_011526038.1:c.1775A>G | XP_011524340.1:p.Gln592Arg | |
| XM_011526039.1:c.1778A>G | XP_011524341.1:p.Gln593Arg | |
| XM_011526040.1:c.1610A>G | XP_011524342.1:p.Gln537Arg | |
| XM_011526041.1:c.1595A>G | XP_011524343.1:p.Gln532Arg | |
| XM_011526042.1:c.1778A>G | XP_011524344.1:p.Gln593Arg | |
| XM_011526043.1:c.*46A>G | XP_011524345.1:n.*46A>G | |
| NM_001353210.1:c.1775A>G | NP_001340139.1:p.Gln592Arg | |
| NM_001353211.1:c.1775A>G | NP_001340140.1:p.Gln592Arg | |
| NM_001353212.1:c.1940A>G | NP_001340141.1:p.Gln647Arg | |
| NM_001353213.1:c.1940A>G | NP_001340142.1:p.Gln647Arg | |
| NM_001353214.1:c.1943A>G | NP_001340143.1:p.Gln648Arg | |
| NM_001353215.1:c.1760A>G | NP_001340144.1:p.Gln587Arg | |
| NM_001353216.1:c.1595A>G | NP_001340145.1:p.Gln532Arg | |
| NM_017653.4:c.1778A>G | NP_060123.3:p.Gln593Arg | |
| XM_006722488.3:c.1778A>G | XP_006722551.1:p.Gln593Arg | |
| XM_011526036.2:c.1778A>G | XP_011524338.1:p.Gln593Arg | |
| XM_011526038.2:c.1775A>G | XP_011524340.1:p.Gln592Arg | |
| XM_011526039.2:c.1778A>G | XP_011524341.1:p.Gln593Arg | |
| XM_011526041.2:c.1595A>G | XP_011524343.1:p.Gln532Arg | |
| XM_011526042.2:c.1778A>G | XP_011524344.1:p.Gln593Arg | |
| XM_017025795.1:c.1772A>G | XP_016881284.1:p.Gln591Arg | |
| XM_017025796.2:c.1598A>G | XP_016881285.1:p.Gln533Arg | |
| XM_017025800.2:c.1592A>G | XP_016881289.1:p.Gln531Arg | |
| XM_017025801.1:c.1589A>G | XP_016881290.1:p.Gln530Arg | |
| XR_002958177.1:n.2243A>G | ||
| NM_001353210.3:c.1775A>G | NP_001340139.1:p.Gln592Arg | |
| NM_001353211.3:c.1775A>G | NP_001340140.1:p.Gln592Arg | |
| NM_001353212.3:c.1940A>G | NP_001340141.1:p.Gln647Arg | |
| NM_001353213.3:c.1940A>G | NP_001340142.1:p.Gln647Arg | |
| NM_001353214.3:c.1943A>G MANE Select | NP_001340143.1:p.Gln648Arg | |
| NM_001353215.3:c.1760A>G | NP_001340144.1:p.Gln587Arg | |
| NM_001353216.3:c.1595A>G | NP_001340145.1:p.Gln532Arg | |
| NM_001374428.1:c.1943A>G | NP_001361357.1:p.Gln648Arg | |
| NM_001374429.1:c.1937A>G | NP_001361358.1:p.Gln646Arg | |
| NM_001374430.1:c.1943A>G | NP_001361359.1:p.Gln648Arg | |
| NM_001374431.1:c.1911+21260A>G | NP_001361360.1:n.1911+21260A>G | |
| NM_001374432.1:c.1817A>G | NP_001361361.1:p.Gln606Arg | |
| NM_001374433.1:c.1778A>G | NP_001361362.1:p.Gln593Arg | |
| NM_001374434.1:c.1746+21260A>G | NP_001361363.1:n.1746+21260A>G | |
| NM_001374435.1:c.1743+21260A>G | NP_001361364.1:n.1743+21260A>G | |
| NM_001374436.1:c.1652A>G | NP_001361365.1:p.Gln551Arg | |
| NM_001374437.1:c.1595A>G | NP_001361366.1:p.Gln532Arg | |
| NM_001374438.1:c.1592A>G | NP_001361367.1:p.Gln531Arg | |
| NM_001374439.1:c.1589A>G | NP_001361368.1:p.Gln530Arg | |
| NM_001374440.1:c.1550A>G | NP_001361369.1:p.Gln517Arg | |
| NM_001374441.1:c.1373A>G | NP_001361370.1:p.Gln458Arg | |
| NM_001374442.1:c.1208A>G | NP_001361371.1:p.Gln403Arg | |
| NM_001374443.1:c.1205A>G | NP_001361372.1:p.Gln402Arg | |
| NM_001374444.1:c.1025A>G | NP_001361373.1:p.Gln342Arg | |
| NM_017653.6:c.1778A>G | NP_060123.3:p.Gln593Arg |