Linked Data
ClinVar Variation Id:
447334
dbSNP Id:
rs374450869
ExAC:
6:110112783 G / A
gnomAD v2:
6-110112783-G-A
gnomAD v3:
6-109791580-G-A
gnomAD v4:
6-109791580-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109791580G>A , CM000668.2:g.109791580G>A | GRCh38 |
| NC_000006.11:g.110112783G>A , CM000668.1:g.110112783G>A | GRCh37 |
| NC_000006.10:g.110219476G>A | NCBI36 |
| NG_007977.1:g.105360G>A , LRG_241:g.105360G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.2376+9G>A MANE Select | ENSP00000230124.4:n.2376+9G>A | |
| ENST00000415980.2:c.882+9G>A | ENSP00000405660.2:n.882+9G>A | |
| ENST00000419951.2:n.724+9G>A | ||
| ENST00000674532.1:n.5572+9G>A | ||
| ENST00000674557.1:c.*1669+9G>A | ENSP00000501608.1:n.*1669+9G>A | |
| ENST00000674569.1:c.*1495+9G>A | ENSP00000502769.1:n.*1495+9G>A | |
| ENST00000674571.1:c.*1495+9G>A | ENSP00000501633.1:n.*1495+9G>A | |
| ENST00000674575.1:c.*1495+9G>A | ENSP00000502276.1:n.*1495+9G>A | |
| ENST00000674641.1:c.2031+9G>A | ENSP00000501609.1:n.2031+9G>A | |
| ENST00000674644.1:c.1446+9G>A | ENSP00000502201.1:n.1446+9G>A | |
| ENST00000674649.1:c.*2069+9G>A | ENSP00000501669.1:n.*2069+9G>A | |
| ENST00000674657.1:c.*1808+9G>A | ENSP00000502314.1:n.*1808+9G>A | |
| ENST00000674744.1:c.2370+9G>A | ENSP00000501661.1:n.2370+9G>A | |
| ENST00000674778.1:c.*1594+9G>A | ENSP00000502742.1:n.*1594+9G>A | |
| ENST00000674783.1:c.*1291+9G>A | ENSP00000502755.1:n.*1291+9G>A | |
| ENST00000674884.1:c.2394+9G>A | ENSP00000502668.1:n.2394+9G>A | |
| ENST00000674930.1:c.*1501+9G>A | ENSP00000502657.1:n.*1501+9G>A | |
| ENST00000674933.1:c.2145+9G>A | ENSP00000502376.1:n.2145+9G>A | |
| ENST00000674956.1:c.*1590+9G>A | ENSP00000501904.1:n.*1590+9G>A | |
| ENST00000675004.1:c.*2328+9G>A | ENSP00000501868.1:n.*2328+9G>A | |
| ENST00000675009.1:c.*1760+9G>A | ENSP00000502098.1:n.*1760+9G>A | |
| ENST00000675096.1:c.2169+9G>A | ENSP00000502116.1:n.2169+9G>A | |
| ENST00000675122.1:c.*483+9G>A | ENSP00000501810.1:n.*483+9G>A | |
| ENST00000675153.1:c.*1093+9G>A | ENSP00000501682.1:n.*1093+9G>A | |
| ENST00000675254.1:n.2834G>A | ||
| ENST00000675272.1:n.6674+9G>A | ||
| ENST00000675284.1:c.2376+9G>A | ENSP00000502758.1:n.2376+9G>A | |
| ENST00000675301.1:n.1033+9G>A | ||
| ENST00000675311.1:c.*1578+9G>A | ENSP00000501961.1:n.*1578+9G>A | |
| ENST00000675426.1:c.*1444+9G>A | ENSP00000501819.1:n.*1444+9G>A | |
| ENST00000675523.1:c.2145+9G>A | ENSP00000502384.1:n.2145+9G>A | |
| ENST00000675552.1:c.*4639+9G>A | ENSP00000502197.1:n.*4639+9G>A | |
| ENST00000675714.1:c.2385G>A | ENSP00000502561.1:p.Gly795= | |
| ENST00000675726.1:c.2376+9G>A | ENSP00000502452.1:n.2376+9G>A | |
| ENST00000675772.1:c.2376+9G>A | ENSP00000501678.1:n.2376+9G>A | |
| ENST00000675831.1:c.1983+9G>A | ENSP00000502382.1:n.1983+9G>A | |
| ENST00000675849.1:n.1998+9G>A | ||
| ENST00000675879.1:c.1221+9G>A | ||
| ENST00000675887.1:c.*1979+9G>A | ENSP00000502123.1:n.*1979+9G>A | |
| ENST00000675954.1:n.3709+9G>A | ||
| ENST00000675991.1:c.*3202G>A | ENSP00000502162.1:n.*3202G>A | |
| ENST00000675994.1:c.*1515+9G>A | ENSP00000502419.1:n.*1515+9G>A | |
| ENST00000676021.1:c.*954+9G>A | ENSP00000502746.1:n.*954+9G>A | |
| ENST00000676037.1:c.*303+9G>A | ENSP00000502181.1:n.*303+9G>A | |
| ENST00000676136.1:n.5023+9G>A | ||
| ENST00000676246.1:n.266+9G>A | ||
| ENST00000676442.1:c.2247+9G>A | ENSP00000502595.1:n.2247+9G>A | |
| ENST00000230124.7:c.2376+9G>A | ENSP00000230124.3:n.2376+9G>A | |
| NM_014845.5:c.2376+9G>A , LRG_241t1:c.2376+9G>A | NP_055660.1:n.2376+9G>A | |
| XM_011536281.1:c.2313+9G>A | XP_011534583.1:n.2313+9G>A | |
| XM_011536281.3:c.2313+9G>A | XP_011534583.1:n.2313+9G>A | |
| XM_017011592.1:c.1827+9G>A | XP_016867081.1:n.1827+9G>A | |
| XM_017011593.2:c.1446+9G>A | XP_016867082.1:n.1446+9G>A | |
| NM_014845.6:c.2376+9G>A MANE Select | NP_055660.1:n.2376+9G>A |