Linked Data
ClinVar Variation Id:
246120
dbSNP Id:
rs747768373
ExAC:
6:110113868 G / A
gnomAD v2:
6-110113868-G-A
gnomAD v3:
6-109792665-G-A
gnomAD v4:
6-109792665-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109792665G>A , CM000668.2:g.109792665G>A | GRCh38 |
| NC_000006.11:g.110113868G>A , CM000668.1:g.110113868G>A | GRCh37 |
| NC_000006.10:g.110220561G>A | NCBI36 |
| NG_007977.1:g.106445G>A , LRG_241:g.106445G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.2459+1G>A MANE Select | ENSP00000230124.4:n.2459+1G>A | |
| ENST00000415980.2:c.965+1G>A | ENSP00000405660.2:n.965+1G>A | |
| ENST00000419951.2:n.807+1G>A | ||
| ENST00000674532.1:n.5655+1G>A | ||
| ENST00000674557.1:c.*1752+1G>A | ENSP00000501608.1:n.*1752+1G>A | |
| ENST00000674569.1:c.*1578+1G>A | ENSP00000502769.1:n.*1578+1G>A | |
| ENST00000674571.1:c.*1578+1G>A | ENSP00000501633.1:n.*1578+1G>A | |
| ENST00000674575.1:c.*1578+1G>A | ENSP00000502276.1:n.*1578+1G>A | |
| ENST00000674641.1:c.2114+1G>A | ENSP00000501609.1:n.2114+1G>A | |
| ENST00000674649.1:c.*2152+1G>A | ENSP00000501669.1:n.*2152+1G>A | |
| ENST00000674657.1:c.*1891+1G>A | ENSP00000502314.1:n.*1891+1G>A | |
| ENST00000674744.1:c.2453+1G>A | ENSP00000501661.1:n.2453+1G>A | |
| ENST00000674778.1:c.*1677+1G>A | ENSP00000502742.1:n.*1677+1G>A | |
| ENST00000674783.1:c.*1374+1G>A | ENSP00000502755.1:n.*1374+1G>A | |
| ENST00000674884.1:c.2477+1G>A | ENSP00000502668.1:n.2477+1G>A | |
| ENST00000674930.1:c.*1584+1G>A | ENSP00000502657.1:n.*1584+1G>A | |
| ENST00000674933.1:c.2228+1G>A | ENSP00000502376.1:n.2228+1G>A | |
| ENST00000674956.1:c.*1673+1G>A | ENSP00000501904.1:n.*1673+1G>A | |
| ENST00000675004.1:c.*2411+1G>A | ENSP00000501868.1:n.*2411+1G>A | |
| ENST00000675009.1:c.*1843+1G>A | ENSP00000502098.1:n.*1843+1G>A | |
| ENST00000675096.1:c.2252+1G>A | ENSP00000502116.1:n.2252+1G>A | |
| ENST00000675122.1:c.*566+1G>A | ENSP00000501810.1:n.*566+1G>A | |
| ENST00000675153.1:c.*1176+1G>A | ENSP00000501682.1:n.*1176+1G>A | |
| ENST00000675254.1:n.3918+1G>A | ||
| ENST00000675272.1:n.6757+1G>A | ||
| ENST00000675284.1:c.2459+1G>A | ENSP00000502758.1:n.2459+1G>A | |
| ENST00000675301.1:n.1116+1G>A | ||
| ENST00000675311.1:c.*1661+1G>A | ENSP00000501961.1:n.*1661+1G>A | |
| ENST00000675426.1:c.*1527+1G>A | ENSP00000501819.1:n.*1527+1G>A | |
| ENST00000675523.1:c.2228+1G>A | ENSP00000502384.1:n.2228+1G>A | |
| ENST00000675552.1:c.*4722+1G>A | ENSP00000502197.1:n.*4722+1G>A | |
| ENST00000675726.1:c.2459+1G>A | ENSP00000502452.1:n.2459+1G>A | |
| ENST00000675772.1:c.2459+1G>A | ENSP00000501678.1:n.2459+1G>A | |
| ENST00000675831.1:c.2066+1G>A | ENSP00000502382.1:n.2066+1G>A | |
| ENST00000675849.1:n.2081+1G>A | ||
| ENST00000675879.1:c.1304+1G>A | ||
| ENST00000675954.1:n.3792+1G>A | ||
| ENST00000675991.1:c.*4286+1G>A | ENSP00000502162.1:n.*4286+1G>A | |
| ENST00000675994.1:c.*1598+1G>A | ENSP00000502419.1:n.*1598+1G>A | |
| ENST00000676021.1:c.*1037+1G>A | ENSP00000502746.1:n.*1037+1G>A | |
| ENST00000676037.1:c.*386+1G>A | ENSP00000502181.1:n.*386+1G>A | |
| ENST00000676136.1:n.5106+1G>A | ||
| ENST00000676246.1:n.349+1G>A | ||
| ENST00000676442.1:c.2330+1G>A | ENSP00000502595.1:n.2330+1G>A | |
| ENST00000230124.7:c.2459+1G>A | ENSP00000230124.3:n.2459+1G>A | |
| NM_014845.5:c.2459+1G>A , LRG_241t1:c.2459+1G>A | NP_055660.1:n.2459+1G>A | |
| XM_011536281.1:c.2396+1G>A | XP_011534583.1:n.2396+1G>A | |
| XM_011536281.3:c.2396+1G>A | XP_011534583.1:n.2396+1G>A | |
| XM_017011592.1:c.1910+1G>A | XP_016867081.1:n.1910+1G>A | |
| XM_017011593.2:c.1529+1G>A | XP_016867082.1:n.1529+1G>A | |
| NM_014845.6:c.2459+1G>A MANE Select | NP_055660.1:n.2459+1G>A |