Linked Data
ClinVar Variation Id:
2885657
ClinVar RCV Id:
RCV003717364
dbSNP Id:
rs773893296
ExAC:
18:46623799 G / A
gnomAD v2:
18-46623799-G-A
gnomAD v3:
18-49097429-G-A
gnomAD v4:
18-49097429-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49097429G>A , CM000680.2:g.49097429G>A | GRCh38 |
| NC_000018.9:g.46623799G>A , CM000680.1:g.46623799G>A | GRCh37 |
| NC_000018.8:g.44877797G>A | NCBI36 |
| NG_009239.1:g.368281C>T | |
| NG_009239.2:g.368305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675505.1:c.1998C>T MANE Select | ENSP00000501694.1:p.Val666= | |
| ENST00000269445.10:c.1833C>T | ENSP00000269445.6:p.Val611= | |
| ENST00000442713.6:c.1263C>T | ENSP00000395942.2:p.Val421= | |
| ENST00000577734.1:c.65C>T | ||
| ENST00000583270.1:n.343C>T | ||
| NM_017653.3:c.1833C>T | NP_060123.3:p.Val611= | |
| XM_006722488.2:c.1833C>T | XP_006722551.1:p.Val611= | |
| XM_006722490.2:c.*126C>T | XP_006722553.1:n.*126C>T | |
| XM_011526036.1:c.1833C>T | XP_011524338.1:p.Val611= | |
| XM_011526037.1:c.1830C>T | XP_011524339.1:p.Val610= | |
| XM_011526038.1:c.1830C>T | XP_011524340.1:p.Val610= | |
| XM_011526039.1:c.1833C>T | XP_011524341.1:p.Val611= | |
| XM_011526040.1:c.1665C>T | XP_011524342.1:p.Val555= | |
| XM_011526041.1:c.1650C>T | XP_011524343.1:p.Val550= | |
| XM_011526042.1:c.1833C>T | XP_011524344.1:p.Val611= | |
| NM_001353210.1:c.1830C>T | NP_001340139.1:p.Val610= | |
| NM_001353211.1:c.1830C>T | NP_001340140.1:p.Val610= | |
| NM_001353212.1:c.1995C>T | NP_001340141.1:p.Val665= | |
| NM_001353213.1:c.1995C>T | NP_001340142.1:p.Val665= | |
| NM_001353214.1:c.1998C>T | NP_001340143.1:p.Val666= | |
| NM_001353215.1:c.1815C>T | NP_001340144.1:p.Val605= | |
| NM_001353216.1:c.1650C>T | NP_001340145.1:p.Val550= | |
| NM_017653.4:c.1833C>T | NP_060123.3:p.Val611= | |
| XM_006722488.3:c.1833C>T | XP_006722551.1:p.Val611= | |
| XM_011526036.2:c.1833C>T | XP_011524338.1:p.Val611= | |
| XM_011526038.2:c.1830C>T | XP_011524340.1:p.Val610= | |
| XM_011526039.2:c.1833C>T | XP_011524341.1:p.Val611= | |
| XM_011526041.2:c.1650C>T | XP_011524343.1:p.Val550= | |
| XM_011526042.2:c.1833C>T | XP_011524344.1:p.Val611= | |
| XM_017025795.1:c.1827C>T | XP_016881284.1:p.Val609= | |
| XM_017025796.2:c.1653C>T | XP_016881285.1:p.Val551= | |
| XM_017025800.2:c.1647C>T | XP_016881289.1:p.Val549= | |
| XM_017025801.1:c.1644C>T | XP_016881290.1:p.Val548= | |
| XR_002958177.1:n.2298C>T | ||
| NM_001353210.3:c.1830C>T | NP_001340139.1:p.Val610= | |
| NM_001353211.3:c.1830C>T | NP_001340140.1:p.Val610= | |
| NM_001353212.3:c.1995C>T | NP_001340141.1:p.Val665= | |
| NM_001353213.3:c.1995C>T | NP_001340142.1:p.Val665= | |
| NM_001353214.3:c.1998C>T MANE Select | NP_001340143.1:p.Val666= | |
| NM_001353215.3:c.1815C>T | NP_001340144.1:p.Val605= | |
| NM_001353216.3:c.1650C>T | NP_001340145.1:p.Val550= | |
| NM_001374428.1:c.1998C>T | NP_001361357.1:p.Val666= | |
| NM_001374429.1:c.1992C>T | NP_001361358.1:p.Val664= | |
| NM_001374430.1:c.1998C>T | NP_001361359.1:p.Val666= | |
| NM_001374431.1:c.1911+21315C>T | NP_001361360.1:n.1911+21315C>T | |
| NM_001374432.1:c.1872C>T | NP_001361361.1:p.Val624= | |
| NM_001374433.1:c.1833C>T | NP_001361362.1:p.Val611= | |
| NM_001374434.1:c.1746+21315C>T | NP_001361363.1:n.1746+21315C>T | |
| NM_001374435.1:c.1743+21315C>T | NP_001361364.1:n.1743+21315C>T | |
| NM_001374436.1:c.1707C>T | NP_001361365.1:p.Val569= | |
| NM_001374437.1:c.1650C>T | NP_001361366.1:p.Val550= | |
| NM_001374438.1:c.1647C>T | NP_001361367.1:p.Val549= | |
| NM_001374439.1:c.1644C>T | NP_001361368.1:p.Val548= | |
| NM_001374440.1:c.1605C>T | NP_001361369.1:p.Val535= | |
| NM_001374441.1:c.1428C>T | NP_001361370.1:p.Val476= | |
| NM_001374442.1:c.1263C>T | NP_001361371.1:p.Val421= | |
| NM_001374443.1:c.1260C>T | NP_001361372.1:p.Val420= | |
| NM_001374444.1:c.1080C>T | NP_001361373.1:p.Val360= | |
| NM_017653.6:c.1833C>T | NP_060123.3:p.Val611= |