Linked Data
ClinVar Variation Id:
355050
dbSNP Id:
rs113946190
ExAC:
6:110146475 C / T
gnomAD v2:
6-110146475-C-T
gnomAD v3:
6-109825272-C-T
gnomAD v4:
6-109825272-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109825272C>T , CM000668.2:g.109825272C>T | GRCh38 |
| NC_000006.11:g.110146475C>T , CM000668.1:g.110146475C>T | GRCh37 |
| NC_000006.10:g.110253168C>T | NCBI36 |
| NG_007977.1:g.139052C>T , LRG_241:g.139052C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.*7C>T MANE Select | ENSP00000230124.4:n.*7C>T | |
| ENST00000415980.2:c.*7C>T | ENSP00000405660.2:n.*7C>T | |
| ENST00000674532.1:n.5927C>T | ||
| ENST00000674557.1:c.*2024C>T | ENSP00000501608.1:n.*2024C>T | |
| ENST00000674569.1:c.*1850C>T | ENSP00000502769.1:n.*1850C>T | |
| ENST00000674571.1:c.*1875C>T | ENSP00000501633.1:n.*1875C>T | |
| ENST00000674573.1:n.1163C>T | ||
| ENST00000674575.1:c.*1850C>T | ENSP00000502276.1:n.*1850C>T | |
| ENST00000674641.1:c.*7C>T | ENSP00000501609.1:n.*7C>T | |
| ENST00000674649.1:c.*2424C>T | ENSP00000501669.1:n.*2424C>T | |
| ENST00000674657.1:c.*2163C>T | ENSP00000502314.1:n.*2163C>T | |
| ENST00000674744.1:c.*7C>T | ENSP00000501661.1:n.*7C>T | |
| ENST00000674778.1:c.*1949C>T | ENSP00000502742.1:n.*1949C>T | |
| ENST00000674783.1:c.*1646C>T | ENSP00000502755.1:n.*1646C>T | |
| ENST00000674884.1:c.*7C>T | ENSP00000502668.1:n.*7C>T | |
| ENST00000674930.1:c.*1769C>T | ENSP00000502657.1:n.*1769C>T | |
| ENST00000674933.1:c.*7C>T | ENSP00000502376.1:n.*7C>T | |
| ENST00000674956.1:c.*1945C>T | ENSP00000501904.1:n.*1945C>T | |
| ENST00000675096.1:c.*7C>T | ENSP00000502116.1:n.*7C>T | |
| ENST00000675122.1:c.*838C>T | ENSP00000501810.1:n.*838C>T | |
| ENST00000675153.1:c.*1448C>T | ENSP00000501682.1:n.*1448C>T | |
| ENST00000675272.1:n.7029C>T | ||
| ENST00000675301.1:n.1388C>T | ||
| ENST00000675311.1:c.*1933C>T | ENSP00000501961.1:n.*1933C>T | |
| ENST00000675426.1:c.*1799C>T | ENSP00000501819.1:n.*1799C>T | |
| ENST00000675523.1:c.*7C>T | ENSP00000502384.1:n.*7C>T | |
| ENST00000675552.1:c.*4994C>T | ENSP00000502197.1:n.*4994C>T | |
| ENST00000675726.1:c.*7C>T | ENSP00000502452.1:n.*7C>T | |
| ENST00000675772.1:c.2546+28421C>T | ENSP00000501678.1:n.2546+28421C>T | |
| ENST00000675831.1:c.*7C>T | ENSP00000502382.1:n.*7C>T | |
| ENST00000675849.1:n.2353C>T | ||
| ENST00000675879.1:c.1576C>T | ||
| ENST00000675954.1:n.4064C>T | ||
| ENST00000675991.1:c.*4558C>T | ENSP00000502162.1:n.*4558C>T | |
| ENST00000675994.1:c.*1870C>T | ENSP00000502419.1:n.*1870C>T | |
| ENST00000676021.1:c.*1309C>T | ENSP00000502746.1:n.*1309C>T | |
| ENST00000676037.1:c.*658C>T | ENSP00000502181.1:n.*658C>T | |
| ENST00000676136.1:n.5378C>T | ||
| ENST00000676442.1:c.*7C>T | ENSP00000502595.1:n.*7C>T | |
| ENST00000230124.7:c.*7C>T | ENSP00000230124.3:n.*7C>T | |
| NM_014845.5:c.*7C>T , LRG_241t1:c.*7C>T | NP_055660.1:n.*7C>T | |
| XM_011536281.1:c.*7C>T | XP_011534583.1:n.*7C>T | |
| XM_011536281.3:c.*7C>T | XP_011534583.1:n.*7C>T | |
| XM_017011592.1:c.*7C>T | XP_016867081.1:n.*7C>T | |
| XM_017011593.2:c.*7C>T | XP_016867082.1:n.*7C>T | |
| NM_014845.6:c.*7C>T MANE Select | NP_055660.1:n.*7C>T |