Linked Data
ClinVar Variation Id:
355047
dbSNP Id:
rs200267243
ExAC:
6:110146286 T / G
gnomAD v2:
6-110146286-T-G
gnomAD v3:
6-109825083-T-G
gnomAD v4:
6-109825083-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109825083T>G , CM000668.2:g.109825083T>G | GRCh38 |
| NC_000006.11:g.110146286T>G , CM000668.1:g.110146286T>G | GRCh37 |
| NC_000006.10:g.110252979T>G | NCBI36 |
| NG_007977.1:g.138863T>G , LRG_241:g.138863T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230124.8:c.2547-5T>G MANE Select | ENSP00000230124.4:n.2547-5T>G | |
| ENST00000415980.2:c.1053-5T>G | ENSP00000405660.2:n.1053-5T>G | |
| ENST00000674532.1:n.5743-5T>G | ||
| ENST00000674557.1:c.*1840-5T>G | ENSP00000501608.1:n.*1840-5T>G | |
| ENST00000674569.1:c.*1666-5T>G | ENSP00000502769.1:n.*1666-5T>G | |
| ENST00000674571.1:c.*1686T>G | ENSP00000501633.1:n.*1686T>G | |
| ENST00000674573.1:n.979-5T>G | ||
| ENST00000674575.1:c.*1666-5T>G | ENSP00000502276.1:n.*1666-5T>G | |
| ENST00000674641.1:c.2202-5T>G | ENSP00000501609.1:n.2202-5T>G | |
| ENST00000674649.1:c.*2240-5T>G | ENSP00000501669.1:n.*2240-5T>G | |
| ENST00000674657.1:c.*1979-5T>G | ENSP00000502314.1:n.*1979-5T>G | |
| ENST00000674744.1:c.2541-5T>G | ENSP00000501661.1:n.2541-5T>G | |
| ENST00000674778.1:c.*1765-5T>G | ENSP00000502742.1:n.*1765-5T>G | |
| ENST00000674783.1:c.*1462-5T>G | ENSP00000502755.1:n.*1462-5T>G | |
| ENST00000674884.1:c.2565-5T>G | ENSP00000502668.1:n.2565-5T>G | |
| ENST00000674930.1:c.*1585-5T>G | ENSP00000502657.1:n.*1585-5T>G | |
| ENST00000674933.1:c.2229-5T>G | ENSP00000502376.1:n.2229-5T>G | |
| ENST00000674956.1:c.*1761-5T>G | ENSP00000501904.1:n.*1761-5T>G | |
| ENST00000675004.1:c.*2412-5T>G | ENSP00000501868.1:n.*2412-5T>G | |
| ENST00000675009.1:c.*1931-5T>G | ENSP00000502098.1:n.*1931-5T>G | |
| ENST00000675096.1:c.2340-5T>G | ENSP00000502116.1:n.2340-5T>G | |
| ENST00000675122.1:c.*654-5T>G | ENSP00000501810.1:n.*654-5T>G | |
| ENST00000675153.1:c.*1264-5T>G | ENSP00000501682.1:n.*1264-5T>G | |
| ENST00000675272.1:n.6845-5T>G | ||
| ENST00000675301.1:n.1204-5T>G | ||
| ENST00000675311.1:c.*1749-5T>G | ENSP00000501961.1:n.*1749-5T>G | |
| ENST00000675426.1:c.*1615-5T>G | ENSP00000501819.1:n.*1615-5T>G | |
| ENST00000675523.1:c.2316-5T>G | ENSP00000502384.1:n.2316-5T>G | |
| ENST00000675552.1:c.*4810-5T>G | ENSP00000502197.1:n.*4810-5T>G | |
| ENST00000675726.1:c.2460-5T>G | ENSP00000502452.1:n.2460-5T>G | |
| ENST00000675772.1:c.2546+28232T>G | ENSP00000501678.1:n.2546+28232T>G | |
| ENST00000675831.1:c.2154-5T>G | ENSP00000502382.1:n.2154-5T>G | |
| ENST00000675849.1:n.2169-5T>G | ||
| ENST00000675879.1:c.1392-5T>G | ||
| ENST00000675954.1:n.3880-5T>G | ||
| ENST00000675991.1:c.*4374-5T>G | ENSP00000502162.1:n.*4374-5T>G | |
| ENST00000675994.1:c.*1686-5T>G | ENSP00000502419.1:n.*1686-5T>G | |
| ENST00000676021.1:c.*1125-5T>G | ENSP00000502746.1:n.*1125-5T>G | |
| ENST00000676037.1:c.*474-5T>G | ENSP00000502181.1:n.*474-5T>G | |
| ENST00000676136.1:n.5194-5T>G | ||
| ENST00000676442.1:c.2418-5T>G | ENSP00000502595.1:n.2418-5T>G | |
| ENST00000230124.7:c.2547-5T>G | ENSP00000230124.3:n.2547-5T>G | |
| NM_014845.5:c.2547-5T>G , LRG_241t1:c.2547-5T>G | NP_055660.1:n.2547-5T>G | |
| XM_011536281.1:c.2484-5T>G | XP_011534583.1:n.2484-5T>G | |
| XM_011536281.3:c.2484-5T>G | XP_011534583.1:n.2484-5T>G | |
| XM_017011592.1:c.1998-5T>G | XP_016867081.1:n.1998-5T>G | |
| XM_017011593.2:c.1617-5T>G | XP_016867082.1:n.1617-5T>G | |
| NM_014845.6:c.2547-5T>G MANE Select | NP_055660.1:n.2547-5T>G |