Linked Data
ClinVar Variation Id:
639976
dbSNP Id:
rs1240862092
gnomAD v2:
19-11152023-T-C
gnomAD v3:
19-11041347-T-C
gnomAD v4:
19-11041347-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11041347T>C , CM000681.2:g.11041347T>C | GRCh38 |
| NC_000019.9:g.11152023T>C , CM000681.1:g.11152023T>C | GRCh37 |
| NC_000019.8:g.11013023T>C | NCBI36 |
| NG_011556.2:g.85426T>C | |
| NG_011556.3:g.85416T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711079.1:c.4307T>C | ENSP00000518564.1:p.Val1436Ala | |
| ENST00000704344.1:c.4211T>C | ENSP00000515855.1:p.Val1404Ala | |
| ENST00000646693.2:c.4307T>C MANE Plus Clinical | ENSP00000495368.1:p.Val1436Ala | |
| ENST00000344626.10:c.4211T>C MANE Select | ENSP00000343896.4:p.Val1404Ala | |
| ENST00000429416.8:c.4211T>C | ENSP00000395654.1:p.Val1404Ala | |
| ENST00000444061.8:c.4112T>C | ENSP00000392837.2:p.Val1371Ala | |
| ENST00000538456.4:c.378T>C | ||
| ENST00000586985.2:c.338T>C | ENSP00000467796.2:p.Val113Ala | |
| ENST00000590574.6:c.4112T>C | ENSP00000466963.1:p.Val1371Ala | |
| ENST00000592158.2:c.152T>C | ENSP00000467200.2:p.Val51Ala | |
| ENST00000592604.6:n.2452T>C | ||
| ENST00000642350.1:c.2705T>C | ENSP00000495355.1:p.Val902Ala | |
| ENST00000642508.1:c.1668T>C | ||
| ENST00000642628.1:c.4208T>C | ENSP00000496498.1:p.Val1403Ala | |
| ENST00000642726.1:c.4208T>C | ENSP00000494353.1:p.Val1403Ala | |
| ENST00000643208.1:c.2768T>C | ENSP00000496074.1:p.Val923Ala | |
| ENST00000643296.1:c.4121T>C | ENSP00000496635.1:p.Val1374Ala | |
| ENST00000643534.1:c.2496T>C | ||
| ENST00000643549.1:c.4217T>C | ENSP00000493975.1:p.Val1406Ala | |
| ENST00000643857.1:c.2575T>C | ||
| ENST00000643929.1:n.704T>C | ||
| ENST00000643995.1:c.3634T>C | ||
| ENST00000644065.1:c.2848T>C | ||
| ENST00000644327.1:c.2883T>C | ||
| ENST00000644737.1:c.4121T>C | ENSP00000495548.1:p.Val1374Ala | |
| ENST00000644963.1:c.2865T>C | ||
| ENST00000645061.1:c.2699T>C | ENSP00000493690.1:p.Val900Ala | |
| ENST00000645236.1:c.760T>C | ||
| ENST00000645460.1:c.4112T>C | ENSP00000494463.1:p.Val1371Ala | |
| ENST00000645648.1:c.2122T>C | ENSP00000493521.1:n.2122T>C | |
| ENST00000646183.1:c.2554T>C | ||
| ENST00000646484.1:c.4112T>C | ENSP00000495536.1:p.Val1371Ala | |
| ENST00000646510.1:c.4112T>C | ENSP00000494772.1:p.Val1371Ala | |
| ENST00000646593.1:c.2059T>C | ENSP00000494341.1:n.2059T>C | |
| ENST00000646693.1:c.4307T>C | ENSP00000495368.1:p.Val1436Ala | |
| ENST00000646746.1:c.2511T>C | ||
| ENST00000646889.1:n.714T>C | ||
| ENST00000647230.1:c.4112T>C | ENSP00000494676.1:p.Val1371Ala | |
| ENST00000647268.1:c.2465T>C | ENSP00000496176.1:p.Val822Ala | |
| ENST00000344626.8:c.4211T>C | ENSP00000343896.4:p.Val1404Ala | |
| ENST00000413806.7:c.4313T>C | ENSP00000414727.3:p.Val1438Ala | |
| ENST00000429416.7:c.4211T>C | ENSP00000395654.1:p.Val1404Ala | |
| ENST00000444061.7:c.4112T>C | ENSP00000392837.2:p.Val1371Ala | |
| ENST00000450717.7:c.4307T>C | ENSP00000397783.3:p.Val1436Ala | |
| ENST00000538456.3:n.525T>C | ||
| ENST00000541122.6:c.4121T>C | ENSP00000445036.2:p.Val1374Ala | |
| ENST00000585799.5:n.2649T>C | ||
| ENST00000589677.5:c.4121T>C | ENSP00000464778.1:p.Val1374Ala | |
| ENST00000590574.5:c.4112T>C | ENSP00000466963.1:p.Val1371Ala | |
| ENST00000591595.5:n.2184T>C | ||
| ENST00000592158.1:c.290T>C | ENSP00000467200.1:p.Val97Ala | |
| ENST00000592604.5:n.2034T>C | ||
| NM_001128844.1:c.4211T>C | NP_001122316.1:p.Val1404Ala | |
| NM_001128845.1:c.4121T>C | NP_001122317.1:p.Val1374Ala | |
| NM_001128846.1:c.4121T>C | NP_001122318.1:p.Val1374Ala | |
| NM_001128847.1:c.4112T>C | NP_001122319.1:p.Val1371Ala | |
| NM_001128848.1:c.4112T>C | NP_001122320.1:p.Val1371Ala | |
| NM_001128849.1:c.4307T>C | NP_001122321.1:p.Val1436Ala | |
| NM_003072.3:c.4211T>C | NP_003063.2:p.Val1404Ala | |
| XM_005260028.2:c.4220T>C | XP_005260085.1:p.Val1407Ala | |
| XM_005260030.2:c.4208T>C | XP_005260087.1:p.Val1403Ala | |
| XM_005260031.2:c.4211T>C | XP_005260088.1:p.Val1404Ala | |
| XM_005260032.2:c.4121T>C | XP_005260089.1:p.Val1374Ala | |
| XM_005260033.2:c.4121T>C | XP_005260090.1:p.Val1374Ala | |
| XM_005260034.2:c.4112T>C | XP_005260091.1:p.Val1371Ala | |
| XM_005260035.2:c.4112T>C | XP_005260092.1:p.Val1371Ala | |
| XM_006722845.2:c.4307T>C | XP_006722908.1:p.Val1436Ala | |
| XM_006722846.2:c.4307T>C | XP_006722909.1:p.Val1436Ala | |
| XM_006722847.2:c.4307T>C | XP_006722910.1:p.Val1436Ala | |
| XM_011528198.1:c.4307T>C | XP_011526500.1:p.Val1436Ala | |
| XM_024451658.1:c.4307T>C | XP_024307426.1:p.Val1436Ala | |
| XM_024451659.1:c.4307T>C | XP_024307427.1:p.Val1436Ala | |
| XM_024451660.1:c.4220T>C | XP_024307428.1:p.Val1407Ala | |
| XM_024451661.1:c.4208T>C | XP_024307429.1:p.Val1403Ala | |
| XM_024451662.1:c.4211T>C | XP_024307430.1:p.Val1404Ala | |
| XM_024451663.1:c.4208T>C | XP_024307431.1:p.Val1403Ala | |
| XM_024451664.1:c.4121T>C | XP_024307432.1:p.Val1374Ala | |
| XM_024451665.1:c.4121T>C | XP_024307433.1:p.Val1374Ala | |
| XM_024451666.1:c.4112T>C | XP_024307434.1:p.Val1371Ala | |
| XM_024451667.1:c.4112T>C | XP_024307435.1:p.Val1371Ala | |
| NM_001128844.3:c.4211T>C | NP_001122316.1:p.Val1404Ala | |
| NM_001128845.2:c.4121T>C | NP_001122317.1:p.Val1374Ala | |
| NM_001128846.2:c.4121T>C | NP_001122318.1:p.Val1374Ala | |
| NM_001128847.4:c.4112T>C | NP_001122319.1:p.Val1371Ala | |
| NM_001128848.2:c.4112T>C | NP_001122320.1:p.Val1371Ala | |
| NM_001128849.3:c.4307T>C | NP_001122321.1:p.Val1436Ala | |
| NM_001374457.1:c.4112T>C | NP_001361386.1:p.Val1371Ala | |
| NM_003072.5:c.4211T>C MANE Select | NP_003063.2:p.Val1404Ala | |
| NR_164683.1:n.4601T>C | ||
| NM_001387283.1:c.4307T>C MANE Plus Clinical | NP_001374212.1:p.Val1436Ala |