Linked Data
ClinVar Variation Id:
326891
dbSNP Id:
rs201023000
ExAC:
18:46623820 C / T
gnomAD v2:
18-46623820-C-T
gnomAD v3:
18-49097450-C-T
gnomAD v4:
18-49097450-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49097450C>T , CM000680.2:g.49097450C>T | GRCh38 |
| NC_000018.9:g.46623820C>T , CM000680.1:g.46623820C>T | GRCh37 |
| NC_000018.8:g.44877818C>T | NCBI36 |
| NG_009239.1:g.368260G>A | |
| NG_009239.2:g.368284G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675505.1:c.1977G>A MANE Select | ENSP00000501694.1:p.Leu659= | |
| ENST00000269445.10:c.1812G>A | ENSP00000269445.6:p.Leu604= | |
| ENST00000442713.6:c.1242G>A | ENSP00000395942.2:p.Leu414= | |
| ENST00000577734.1:c.44G>A | ||
| ENST00000583270.1:n.322G>A | ||
| NM_017653.3:c.1812G>A | NP_060123.3:p.Leu604= | |
| XM_006722488.2:c.1812G>A | XP_006722551.1:p.Leu604= | |
| XM_006722490.2:c.*105G>A | XP_006722553.1:n.*105G>A | |
| XM_011526036.1:c.1812G>A | XP_011524338.1:p.Leu604= | |
| XM_011526037.1:c.1809G>A | XP_011524339.1:p.Leu603= | |
| XM_011526038.1:c.1809G>A | XP_011524340.1:p.Leu603= | |
| XM_011526039.1:c.1812G>A | XP_011524341.1:p.Leu604= | |
| XM_011526040.1:c.1644G>A | XP_011524342.1:p.Leu548= | |
| XM_011526041.1:c.1629G>A | XP_011524343.1:p.Leu543= | |
| XM_011526042.1:c.1812G>A | XP_011524344.1:p.Leu604= | |
| XM_011526043.1:c.*80G>A | XP_011524345.1:n.*80G>A | |
| NM_001353210.1:c.1809G>A | NP_001340139.1:p.Leu603= | |
| NM_001353211.1:c.1809G>A | NP_001340140.1:p.Leu603= | |
| NM_001353212.1:c.1974G>A | NP_001340141.1:p.Leu658= | |
| NM_001353213.1:c.1974G>A | NP_001340142.1:p.Leu658= | |
| NM_001353214.1:c.1977G>A | NP_001340143.1:p.Leu659= | |
| NM_001353215.1:c.1794G>A | NP_001340144.1:p.Leu598= | |
| NM_001353216.1:c.1629G>A | NP_001340145.1:p.Leu543= | |
| NM_017653.4:c.1812G>A | NP_060123.3:p.Leu604= | |
| XM_006722488.3:c.1812G>A | XP_006722551.1:p.Leu604= | |
| XM_011526036.2:c.1812G>A | XP_011524338.1:p.Leu604= | |
| XM_011526038.2:c.1809G>A | XP_011524340.1:p.Leu603= | |
| XM_011526039.2:c.1812G>A | XP_011524341.1:p.Leu604= | |
| XM_011526041.2:c.1629G>A | XP_011524343.1:p.Leu543= | |
| XM_011526042.2:c.1812G>A | XP_011524344.1:p.Leu604= | |
| XM_017025795.1:c.1806G>A | XP_016881284.1:p.Leu602= | |
| XM_017025796.2:c.1632G>A | XP_016881285.1:p.Leu544= | |
| XM_017025800.2:c.1626G>A | XP_016881289.1:p.Leu542= | |
| XM_017025801.1:c.1623G>A | XP_016881290.1:p.Leu541= | |
| XR_002958177.1:n.2277G>A | ||
| NM_001353210.3:c.1809G>A | NP_001340139.1:p.Leu603= | |
| NM_001353211.3:c.1809G>A | NP_001340140.1:p.Leu603= | |
| NM_001353212.3:c.1974G>A | NP_001340141.1:p.Leu658= | |
| NM_001353213.3:c.1974G>A | NP_001340142.1:p.Leu658= | |
| NM_001353214.3:c.1977G>A MANE Select | NP_001340143.1:p.Leu659= | |
| NM_001353215.3:c.1794G>A | NP_001340144.1:p.Leu598= | |
| NM_001353216.3:c.1629G>A | NP_001340145.1:p.Leu543= | |
| NM_001374428.1:c.1977G>A | NP_001361357.1:p.Leu659= | |
| NM_001374429.1:c.1971G>A | NP_001361358.1:p.Leu657= | |
| NM_001374430.1:c.1977G>A | NP_001361359.1:p.Leu659= | |
| NM_001374431.1:c.1911+21294G>A | NP_001361360.1:n.1911+21294G>A | |
| NM_001374432.1:c.1851G>A | NP_001361361.1:p.Leu617= | |
| NM_001374433.1:c.1812G>A | NP_001361362.1:p.Leu604= | |
| NM_001374434.1:c.1746+21294G>A | NP_001361363.1:n.1746+21294G>A | |
| NM_001374435.1:c.1743+21294G>A | NP_001361364.1:n.1743+21294G>A | |
| NM_001374436.1:c.1686G>A | NP_001361365.1:p.Leu562= | |
| NM_001374437.1:c.1629G>A | NP_001361366.1:p.Leu543= | |
| NM_001374438.1:c.1626G>A | NP_001361367.1:p.Leu542= | |
| NM_001374439.1:c.1623G>A | NP_001361368.1:p.Leu541= | |
| NM_001374440.1:c.1584G>A | NP_001361369.1:p.Leu528= | |
| NM_001374441.1:c.1407G>A | NP_001361370.1:p.Leu469= | |
| NM_001374442.1:c.1242G>A | NP_001361371.1:p.Leu414= | |
| NM_001374443.1:c.1239G>A | NP_001361372.1:p.Leu413= | |
| NM_001374444.1:c.1059G>A | NP_001361373.1:p.Leu353= | |
| NM_017653.6:c.1812G>A | NP_060123.3:p.Leu604= |