Linked Data
ClinVar Variation Id:
635379
ClinVar RCV Id:
RCV000786806
dbSNP Id:
rs1600405252
MutSpliceDB:
CA404067977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11034913G>C , CM000681.2:g.11034913G>C | GRCh38 |
| NC_000019.9:g.11145589G>C , CM000681.1:g.11145589G>C | GRCh37 |
| NC_000019.8:g.11006589G>C | NCBI36 |
| NG_011556.2:g.78992G>C | |
| NG_011556.3:g.78982G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711079.1:c.3952-1G>C | ENSP00000518564.1:n.3952-1G>C | |
| ENST00000704344.1:c.3952-1G>C | ENSP00000515855.1:n.3952-1G>C | |
| ENST00000646693.2:c.3952-1G>C MANE Plus Clinical | ENSP00000495368.1:n.3952-1G>C | |
| ENST00000344626.10:c.3952-1G>C MANE Select | ENSP00000343896.4:n.3952-1G>C | |
| ENST00000429416.8:c.3952-1G>C | ENSP00000395654.1:n.3952-1G>C | |
| ENST00000444061.8:c.3853-1G>C | ENSP00000392837.2:n.3853-1G>C | |
| ENST00000538456.4:c.110-1G>C | ||
| ENST00000586985.2:c.79-1G>C | ENSP00000467796.2:n.79-1G>C | |
| ENST00000590574.6:c.3853-1G>C | ENSP00000466963.1:n.3853-1G>C | |
| ENST00000592604.6:n.2184-1G>C | ||
| ENST00000642350.1:c.2437-1G>C | ENSP00000495355.1:n.2437-1G>C | |
| ENST00000642508.1:c.1313-1G>C | ||
| ENST00000642628.1:c.3853-1G>C | ENSP00000496498.1:n.3853-1G>C | |
| ENST00000642726.1:c.3853-1G>C | ENSP00000494353.1:n.3853-1G>C | |
| ENST00000643208.1:c.2509-1G>C | ENSP00000496074.1:n.2509-1G>C | |
| ENST00000643296.1:c.3853-1G>C | ENSP00000496635.1:n.3853-1G>C | |
| ENST00000643534.1:c.2237-1G>C | ||
| ENST00000643549.1:c.3853-1G>C | ENSP00000493975.1:n.3853-1G>C | |
| ENST00000643857.1:c.2307-1G>C | ||
| ENST00000643995.1:c.3366-1G>C | ||
| ENST00000644065.1:c.2580-1G>C | ||
| ENST00000644267.1:n.2307-1G>C | ||
| ENST00000644327.1:c.2624-1G>C | ||
| ENST00000644737.1:c.3853-1G>C | ENSP00000495548.1:n.3853-1G>C | |
| ENST00000644963.1:c.2597-1G>C | ||
| ENST00000645061.1:c.2440-1G>C | ENSP00000493690.1:n.2440-1G>C | |
| ENST00000645236.1:c.501-1G>C | ||
| ENST00000645460.1:c.3853-1G>C | ENSP00000494463.1:n.3853-1G>C | |
| ENST00000645648.1:c.1863-1G>C | ENSP00000493521.1:n.1863-1G>C | |
| ENST00000646183.1:c.2199-1G>C | ||
| ENST00000646236.1:c.1546-1G>C | ENSP00000493925.1:n.1546-1G>C | |
| ENST00000646484.1:c.3853-1G>C | ENSP00000495536.1:n.3853-1G>C | |
| ENST00000646510.1:c.3853-1G>C | ENSP00000494772.1:n.3853-1G>C | |
| ENST00000646593.1:c.1800-1G>C | ENSP00000494341.1:n.1800-1G>C | |
| ENST00000646693.1:c.3952-1G>C | ENSP00000495368.1:n.3952-1G>C | |
| ENST00000646746.1:c.2252-1G>C | ||
| ENST00000647230.1:c.3853-1G>C | ENSP00000494676.1:n.3853-1G>C | |
| ENST00000647268.1:c.2206-1G>C | ENSP00000496176.1:n.2206-1G>C | |
| ENST00000344626.8:c.3952-1G>C | ENSP00000343896.4:n.3952-1G>C | |
| ENST00000413806.7:c.4045-1G>C | ENSP00000414727.3:n.4045-1G>C | |
| ENST00000429416.7:c.3952-1G>C | ENSP00000395654.1:n.3952-1G>C | |
| ENST00000444061.7:c.3853-1G>C | ENSP00000392837.2:n.3853-1G>C | |
| ENST00000450717.7:c.3952-1G>C | ENSP00000397783.3:n.3952-1G>C | |
| ENST00000538456.3:n.161-1G>C | ||
| ENST00000541122.6:c.3853-1G>C | ENSP00000445036.2:n.3853-1G>C | |
| ENST00000585799.5:n.2381-1G>C | ||
| ENST00000589677.5:c.3853-1G>C | ENSP00000464778.1:n.3853-1G>C | |
| ENST00000590574.5:c.3853-1G>C | ENSP00000466963.1:n.3853-1G>C | |
| ENST00000591595.5:n.1925-1G>C | ||
| ENST00000592158.1:c.130-109G>C | ENSP00000467200.1:n.130-109G>C | |
| ENST00000592604.5:n.1766-1G>C | ||
| NM_001128844.1:c.3952-1G>C | NP_001122316.1:n.3952-1G>C | |
| NM_001128845.1:c.3853-1G>C | NP_001122317.1:n.3853-1G>C | |
| NM_001128846.1:c.3853-1G>C | NP_001122318.1:n.3853-1G>C | |
| NM_001128847.1:c.3853-1G>C | NP_001122319.1:n.3853-1G>C | |
| NM_001128848.1:c.3853-1G>C | NP_001122320.1:n.3853-1G>C | |
| NM_001128849.1:c.3952-1G>C | NP_001122321.1:n.3952-1G>C | |
| NM_003072.3:c.3952-1G>C | NP_003063.2:n.3952-1G>C | |
| XM_005260028.2:c.3952-1G>C | XP_005260085.1:n.3952-1G>C | |
| XM_005260030.2:c.3853-1G>C | XP_005260087.1:n.3853-1G>C | |
| XM_005260031.2:c.3952-1G>C | XP_005260088.1:n.3952-1G>C | |
| XM_005260032.2:c.3853-1G>C | XP_005260089.1:n.3853-1G>C | |
| XM_005260033.2:c.3853-1G>C | XP_005260090.1:n.3853-1G>C | |
| XM_005260034.2:c.3853-1G>C | XP_005260091.1:n.3853-1G>C | |
| XM_005260035.2:c.3853-1G>C | XP_005260092.1:n.3853-1G>C | |
| XM_006722845.2:c.3952-1G>C | XP_006722908.1:n.3952-1G>C | |
| XM_006722846.2:c.3952-1G>C | XP_006722909.1:n.3952-1G>C | |
| XM_006722847.2:c.3952-1G>C | XP_006722910.1:n.3952-1G>C | |
| XM_011528198.1:c.3952-1G>C | XP_011526500.1:n.3952-1G>C | |
| XM_024451658.1:c.3952-1G>C | XP_024307426.1:n.3952-1G>C | |
| XM_024451659.1:c.3952-1G>C | XP_024307427.1:n.3952-1G>C | |
| XM_024451660.1:c.3952-1G>C | XP_024307428.1:n.3952-1G>C | |
| XM_024451661.1:c.3853-1G>C | XP_024307429.1:n.3853-1G>C | |
| XM_024451662.1:c.3952-1G>C | XP_024307430.1:n.3952-1G>C | |
| XM_024451663.1:c.3853-1G>C | XP_024307431.1:n.3853-1G>C | |
| XM_024451664.1:c.3853-1G>C | XP_024307432.1:n.3853-1G>C | |
| XM_024451665.1:c.3853-1G>C | XP_024307433.1:n.3853-1G>C | |
| XM_024451666.1:c.3853-1G>C | XP_024307434.1:n.3853-1G>C | |
| XM_024451667.1:c.3853-1G>C | XP_024307435.1:n.3853-1G>C | |
| NM_001128844.3:c.3952-1G>C | NP_001122316.1:n.3952-1G>C | |
| NM_001128845.2:c.3853-1G>C | NP_001122317.1:n.3853-1G>C | |
| NM_001128846.2:c.3853-1G>C | NP_001122318.1:n.3853-1G>C | |
| NM_001128847.4:c.3853-1G>C | NP_001122319.1:n.3853-1G>C | |
| NM_001128848.2:c.3853-1G>C | NP_001122320.1:n.3853-1G>C | |
| NM_001128849.3:c.3952-1G>C | NP_001122321.1:n.3952-1G>C | |
| NM_001374457.1:c.3853-1G>C | NP_001361386.1:n.3853-1G>C | |
| NM_003072.5:c.3952-1G>C MANE Select | NP_003063.2:n.3952-1G>C | |
| NR_164683.1:n.4143-1G>C | ||
| NM_001387283.1:c.3952-1G>C MANE Plus Clinical | NP_001374212.1:n.3952-1G>C |