Linked Data
dbSNP Id:
rs375734567
ExAC:
1:40312989 T / C
gnomAD v2:
1-40312989-T-C
gnomAD v3:
1-39847317-T-C
gnomAD v4:
1-39847317-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39847317T>C , CM000663.2:g.39847317T>C | GRCh38 |
| NC_000001.10:g.40312989T>C , CM000663.1:g.40312989T>C | GRCh37 |
| NC_000001.9:g.40085576T>C | NCBI36 |
| NG_042822.1:g.41195A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316891.10:c.929-20A>G MANE Select | ENSP00000321810.5:n.929-20A>G | |
| ENST00000648678.1:c.1821-20A>G | ENSP00000497805.1:n.1821-20A>G | |
| ENST00000316891.9:c.929-20A>G | ENSP00000321810.5:n.929-20A>G | |
| ENST00000372818.5:c.928+231A>G | ENSP00000361905.1:n.928+231A>G | |
| ENST00000441669.6:c.683-20A>G | ENSP00000388333.2:n.683-20A>G | |
| ENST00000462797.5:c.929-20A>G | ENSP00000473773.1:n.929-20A>G | |
| ENST00000465417.5:n.113-20A>G | ||
| ENST00000467774.1:n.211-20A>G | ||
| ENST00000486825.6:c.834-20A>G | ||
| ENST00000489945.5:c.*347-20A>G | ENSP00000473745.1:n.*347-20A>G | |
| ENST00000491865.5:n.164-20A>G | ||
| ENST00000492612.6:c.773-20A>G | ||
| ENST00000495175.6:c.*351-20A>G | ENSP00000474264.1:n.*351-20A>G | |
| ENST00000537440.5:c.17-20A>G | ENSP00000437700.1:n.17-20A>G | |
| ENST00000541099.5:c.-140-2677A>G | ENSP00000437896.1:n.-140-2677A>G | |
| NM_001312691.1:c.928+231A>G | NP_001299620.1:n.928+231A>G | |
| NM_001312692.1:c.683-20A>G | NP_001299621.1:n.683-20A>G | |
| NM_017646.4:c.929-20A>G | NP_060116.2:n.929-20A>G | |
| NM_017646.5:c.929-20A>G | NP_060116.2:n.929-20A>G | |
| NR_132401.1:n.945-20A>G | ||
| NR_132402.1:n.803-20A>G | ||
| NR_132403.1:n.799-20A>G | ||
| NR_132404.1:n.799-20A>G | ||
| NR_132405.1:n.795-20A>G | ||
| NR_132406.1:n.686-20A>G | ||
| NR_132407.1:n.563-20A>G | ||
| NR_132408.1:n.559-20A>G | ||
| NR_132409.1:n.420-20A>G | ||
| NR_132410.1:n.446-20A>G | ||
| NR_132412.1:n.307-20A>G | ||
| NR_132413.1:n.195-2677A>G | ||
| NR_132414.1:n.195-5404A>G | ||
| NR_132415.1:n.1036-20A>G | ||
| XM_005270954.1:c.686-20A>G | XP_005271011.1:n.686-20A>G | |
| XM_006710706.1:c.506-20A>G | XP_006710769.1:n.506-20A>G | |
| XM_005270954.2:c.686-20A>G | XP_005271011.1:n.686-20A>G | |
| XR_946672.2:n.1029-20A>G | ||
| NM_017646.6:c.929-20A>G MANE Select | NP_060116.2:n.929-20A>G |