Linked Data
ClinVar Variation Id:
260446
dbSNP Id:
rs199522051
ExAC:
6:110087924 T / A
gnomAD v2:
6-110087924-T-A
gnomAD v3:
6-109766721-T-A
gnomAD v4:
6-109766721-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109766721T>A , CM000668.2:g.109766721T>A | GRCh38 |
| NC_000006.11:g.110087924T>A , CM000668.1:g.110087924T>A | GRCh37 |
| NC_000006.10:g.110194617T>A | NCBI36 |
| NG_007977.1:g.80501T>A , LRG_241:g.80501T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.1584-8T>A MANE Select | ENSP00000230124.4:n.1584-8T>A | |
| ENST00000415980.2:c.90-8T>A | ENSP00000405660.2:n.90-8T>A | |
| ENST00000674532.1:n.4780-8T>A | ||
| ENST00000674557.1:c.*1016-8T>A | ENSP00000501608.1:n.*1016-8T>A | |
| ENST00000674569.1:c.*703-8T>A | ENSP00000502769.1:n.*703-8T>A | |
| ENST00000674571.1:c.*703-8T>A | ENSP00000501633.1:n.*703-8T>A | |
| ENST00000674575.1:c.*703-8T>A | ENSP00000502276.1:n.*703-8T>A | |
| ENST00000674641.1:c.1239-8T>A | ENSP00000501609.1:n.1239-8T>A | |
| ENST00000674644.1:c.654-8T>A | ENSP00000502201.1:n.654-8T>A | |
| ENST00000674649.1:c.*1277-8T>A | ENSP00000501669.1:n.*1277-8T>A | |
| ENST00000674657.1:c.*1016-8T>A | ENSP00000502314.1:n.*1016-8T>A | |
| ENST00000674744.1:c.1578-8T>A | ENSP00000501661.1:n.1578-8T>A | |
| ENST00000674778.1:c.*703-8T>A | ENSP00000502742.1:n.*703-8T>A | |
| ENST00000674783.1:c.*499-8T>A | ENSP00000502755.1:n.*499-8T>A | |
| ENST00000674884.1:c.1602-8T>A | ENSP00000502668.1:n.1602-8T>A | |
| ENST00000674930.1:c.*709-8T>A | ENSP00000502657.1:n.*709-8T>A | |
| ENST00000674933.1:c.1353-8T>A | ENSP00000502376.1:n.1353-8T>A | |
| ENST00000674956.1:c.*798-8T>A | ENSP00000501904.1:n.*798-8T>A | |
| ENST00000675004.1:c.*1536-8T>A | ENSP00000501868.1:n.*1536-8T>A | |
| ENST00000675009.1:c.*968-8T>A | ENSP00000502098.1:n.*968-8T>A | |
| ENST00000675096.1:c.1584-8T>A | ENSP00000502116.1:n.1584-8T>A | |
| ENST00000675122.1:c.1584-8T>A | ENSP00000501810.1:n.1584-8T>A | |
| ENST00000675153.1:c.*301-8T>A | ENSP00000501682.1:n.*301-8T>A | |
| ENST00000675272.1:n.5882-8T>A | ||
| ENST00000675284.1:c.1584-8T>A | ENSP00000502758.1:n.1584-8T>A | |
| ENST00000675301.1:n.241-8T>A | ||
| ENST00000675311.1:c.*786-8T>A | ENSP00000501961.1:n.*786-8T>A | |
| ENST00000675426.1:c.*652-8T>A | ENSP00000501819.1:n.*652-8T>A | |
| ENST00000675523.1:c.1353-8T>A | ENSP00000502384.1:n.1353-8T>A | |
| ENST00000675552.1:c.*703-8T>A | ENSP00000502197.1:n.*703-8T>A | |
| ENST00000675681.1:c.1584-8T>A | ENSP00000502705.1:n.1584-8T>A | |
| ENST00000675714.1:c.1584-8T>A | ENSP00000502561.1:n.1584-8T>A | |
| ENST00000675726.1:c.1584-8T>A | ENSP00000502452.1:n.1584-8T>A | |
| ENST00000675772.1:c.1584-8T>A | ENSP00000501678.1:n.1584-8T>A | |
| ENST00000675831.1:c.1191-8T>A | ENSP00000502382.1:n.1191-8T>A | |
| ENST00000675847.1:n.1708-8T>A | ||
| ENST00000675849.1:n.1206-8T>A | ||
| ENST00000675879.1:c.313-8T>A | ||
| ENST00000675887.1:c.*1187-8T>A | ENSP00000502123.1:n.*1187-8T>A | |
| ENST00000675973.1:c.1455-8T>A | ENSP00000502407.1:n.1455-8T>A | |
| ENST00000675991.1:c.*703-8T>A | ENSP00000502162.1:n.*703-8T>A | |
| ENST00000675994.1:c.*703-8T>A | ENSP00000502419.1:n.*703-8T>A | |
| ENST00000676021.1:c.*301-8T>A | ENSP00000502746.1:n.*301-8T>A | |
| ENST00000676037.1:c.1584-8T>A | ENSP00000502181.1:n.1584-8T>A | |
| ENST00000676136.1:n.1724-8T>A | ||
| ENST00000676442.1:c.1455-8T>A | ENSP00000502595.1:n.1455-8T>A | |
| ENST00000230124.7:c.1584-8T>A | ENSP00000230124.3:n.1584-8T>A | |
| NM_014845.5:c.1584-8T>A , LRG_241t1:c.1584-8T>A | NP_055660.1:n.1584-8T>A | |
| XM_011536281.1:c.1521-8T>A | XP_011534583.1:n.1521-8T>A | |
| XM_011536281.3:c.1521-8T>A | XP_011534583.1:n.1521-8T>A | |
| XM_017011591.2:c.1584-8T>A | XP_016867080.1:n.1584-8T>A | |
| XM_017011592.1:c.1035-8T>A | XP_016867081.1:n.1035-8T>A | |
| XM_017011593.2:c.654-8T>A | XP_016867082.1:n.654-8T>A | |
| NM_014845.6:c.1584-8T>A MANE Select | NP_055660.1:n.1584-8T>A |