Linked Data
ClinVar Variation Id:
447336
dbSNP Id:
rs745790694
ExAC:
6:110117975 C / T
gnomAD v2:
6-110117975-C-T
gnomAD v3:
6-109796772-C-T
gnomAD v4:
6-109796772-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109796772C>T , CM000668.2:g.109796772C>T | GRCh38 |
| NC_000006.11:g.110117975C>T , CM000668.1:g.110117975C>T | GRCh37 |
| NC_000006.10:g.110224668C>T | NCBI36 |
| NG_007977.1:g.110552C>T , LRG_241:g.110552C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.2467C>T MANE Select | ENSP00000230124.4:p.Gln823Ter | |
| ENST00000415980.2:c.973C>T | ENSP00000405660.2:p.Gln325Ter | |
| ENST00000419951.2:n.815C>T | ||
| ENST00000674532.1:n.5663C>T | ||
| ENST00000674557.1:c.*1760C>T | ENSP00000501608.1:n.*1760C>T | |
| ENST00000674569.1:c.*1586C>T | ENSP00000502769.1:n.*1586C>T | |
| ENST00000674571.1:c.*1586C>T | ENSP00000501633.1:n.*1586C>T | |
| ENST00000674573.1:n.899C>T | ||
| ENST00000674575.1:c.*1586C>T | ENSP00000502276.1:n.*1586C>T | |
| ENST00000674641.1:c.2122C>T | ENSP00000501609.1:p.Gln708Ter | |
| ENST00000674649.1:c.*2160C>T | ENSP00000501669.1:n.*2160C>T | |
| ENST00000674657.1:c.*1899C>T | ENSP00000502314.1:n.*1899C>T | |
| ENST00000674744.1:c.2461C>T | ENSP00000501661.1:p.Gln821Ter | |
| ENST00000674778.1:c.*1685C>T | ENSP00000502742.1:n.*1685C>T | |
| ENST00000674783.1:c.*1382C>T | ENSP00000502755.1:n.*1382C>T | |
| ENST00000674884.1:c.2485C>T | ENSP00000502668.1:p.Gln829Ter | |
| ENST00000674930.1:c.*1584+4108C>T | ENSP00000502657.1:n.*1584+4108C>T | |
| ENST00000674933.1:c.2228+4108C>T | ENSP00000502376.1:n.2228+4108C>T | |
| ENST00000674956.1:c.*1681C>T | ENSP00000501904.1:n.*1681C>T | |
| ENST00000675004.1:c.*2411+4108C>T | ENSP00000501868.1:n.*2411+4108C>T | |
| ENST00000675009.1:c.*1851C>T | ENSP00000502098.1:n.*1851C>T | |
| ENST00000675096.1:c.2260C>T | ENSP00000502116.1:p.Gln754Ter | |
| ENST00000675122.1:c.*574C>T | ENSP00000501810.1:n.*574C>T | |
| ENST00000675153.1:c.*1184C>T | ENSP00000501682.1:n.*1184C>T | |
| ENST00000675254.1:n.3926C>T | ||
| ENST00000675272.1:n.6765C>T | ||
| ENST00000675284.1:c.2467C>T | ENSP00000502758.1:p.Gln823Ter | |
| ENST00000675301.1:n.1124C>T | ||
| ENST00000675311.1:c.*1669C>T | ENSP00000501961.1:n.*1669C>T | |
| ENST00000675426.1:c.*1535C>T | ENSP00000501819.1:n.*1535C>T | |
| ENST00000675523.1:c.2236C>T | ENSP00000502384.1:p.Gln746Ter | |
| ENST00000675552.1:c.*4730C>T | ENSP00000502197.1:n.*4730C>T | |
| ENST00000675726.1:c.2459+4108C>T | ENSP00000502452.1:n.2459+4108C>T | |
| ENST00000675772.1:c.2467C>T | ENSP00000501678.1:p.Gln823Ter | |
| ENST00000675831.1:c.2074C>T | ENSP00000502382.1:p.Gln692Ter | |
| ENST00000675849.1:n.2089C>T | ||
| ENST00000675879.1:c.1312C>T | ||
| ENST00000675954.1:n.3800C>T | ||
| ENST00000675991.1:c.*4294C>T | ENSP00000502162.1:n.*4294C>T | |
| ENST00000675994.1:c.*1606C>T | ENSP00000502419.1:n.*1606C>T | |
| ENST00000676021.1:c.*1045C>T | ENSP00000502746.1:n.*1045C>T | |
| ENST00000676037.1:c.*394C>T | ENSP00000502181.1:n.*394C>T | |
| ENST00000676136.1:n.5114C>T | ||
| ENST00000676246.1:n.357C>T | ||
| ENST00000676442.1:c.2338C>T | ENSP00000502595.1:p.Gln780Ter | |
| ENST00000230124.7:c.2467C>T | ENSP00000230124.3:p.Gln823Ter | |
| NM_014845.5:c.2467C>T , LRG_241t1:c.2467C>T | NP_055660.1:p.Gln823Ter | |
| XM_011536281.1:c.2404C>T | XP_011534583.1:p.Gln802Ter | |
| XM_011536281.3:c.2404C>T | XP_011534583.1:p.Gln802Ter | |
| XM_017011592.1:c.1918C>T | XP_016867081.1:p.Gln640Ter | |
| XM_017011593.2:c.1537C>T | XP_016867082.1:p.Gln513Ter | |
| NM_014845.6:c.2467C>T MANE Select | NP_055660.1:p.Gln823Ter |