Linked Data
dbSNP Id:
rs772060882
ExAC:
1:40313002 G / A
gnomAD v2:
1-40313002-G-A
gnomAD v3:
1-39847330-G-A
gnomAD v4:
1-39847330-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39847330G>A , CM000663.2:g.39847330G>A | GRCh38 |
| NC_000001.10:g.40313002G>A , CM000663.1:g.40313002G>A | GRCh37 |
| NC_000001.9:g.40085589G>A | NCBI36 |
| NG_042822.1:g.41182C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316891.10:c.929-33C>T MANE Select | ENSP00000321810.5:n.929-33C>T | |
| ENST00000648678.1:c.1821-33C>T | ENSP00000497805.1:n.1821-33C>T | |
| ENST00000316891.9:c.929-33C>T | ENSP00000321810.5:n.929-33C>T | |
| ENST00000372818.5:c.928+218C>T | ENSP00000361905.1:n.928+218C>T | |
| ENST00000441669.6:c.683-33C>T | ENSP00000388333.2:n.683-33C>T | |
| ENST00000462797.5:c.929-33C>T | ENSP00000473773.1:n.929-33C>T | |
| ENST00000465417.5:n.113-33C>T | ||
| ENST00000467774.1:n.211-33C>T | ||
| ENST00000486825.6:c.834-33C>T | ||
| ENST00000489945.5:c.*347-33C>T | ENSP00000473745.1:n.*347-33C>T | |
| ENST00000491865.5:n.164-33C>T | ||
| ENST00000492612.6:c.773-33C>T | ||
| ENST00000495175.6:c.*351-33C>T | ENSP00000474264.1:n.*351-33C>T | |
| ENST00000537440.5:c.17-33C>T | ENSP00000437700.1:n.17-33C>T | |
| ENST00000541099.5:c.-140-2690C>T | ENSP00000437896.1:n.-140-2690C>T | |
| NM_001312691.1:c.928+218C>T | NP_001299620.1:n.928+218C>T | |
| NM_001312692.1:c.683-33C>T | NP_001299621.1:n.683-33C>T | |
| NM_017646.4:c.929-33C>T | NP_060116.2:n.929-33C>T | |
| NM_017646.5:c.929-33C>T | NP_060116.2:n.929-33C>T | |
| NR_132401.1:n.945-33C>T | ||
| NR_132402.1:n.803-33C>T | ||
| NR_132403.1:n.799-33C>T | ||
| NR_132404.1:n.799-33C>T | ||
| NR_132405.1:n.795-33C>T | ||
| NR_132406.1:n.686-33C>T | ||
| NR_132407.1:n.563-33C>T | ||
| NR_132408.1:n.559-33C>T | ||
| NR_132409.1:n.420-33C>T | ||
| NR_132410.1:n.446-33C>T | ||
| NR_132412.1:n.307-33C>T | ||
| NR_132413.1:n.195-2690C>T | ||
| NR_132414.1:n.195-5417C>T | ||
| NR_132415.1:n.1036-33C>T | ||
| XM_005270954.1:c.686-33C>T | XP_005271011.1:n.686-33C>T | |
| XM_006710706.1:c.506-33C>T | XP_006710769.1:n.506-33C>T | |
| XM_005270954.2:c.686-33C>T | XP_005271011.1:n.686-33C>T | |
| XR_946672.2:n.1029-33C>T | ||
| NM_017646.6:c.929-33C>T MANE Select | NP_060116.2:n.929-33C>T |