Linked Data
dbSNP Id:
rs75996803
ExAC:
1:40313018 C / G
gnomAD v2:
1-40313018-C-G
gnomAD v3:
1-39847346-C-G
gnomAD v4:
1-39847346-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39847346C>G , CM000663.2:g.39847346C>G | GRCh38 |
| NC_000001.10:g.40313018C>G , CM000663.1:g.40313018C>G | GRCh37 |
| NC_000001.9:g.40085605C>G | NCBI36 |
| NG_042822.1:g.41166G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316891.10:c.929-49G>C MANE Select | ENSP00000321810.5:n.929-49G>C | |
| ENST00000648678.1:c.1821-49G>C | ENSP00000497805.1:n.1821-49G>C | |
| ENST00000316891.9:c.929-49G>C | ENSP00000321810.5:n.929-49G>C | |
| ENST00000372818.5:c.928+202G>C | ENSP00000361905.1:n.928+202G>C | |
| ENST00000441669.6:c.683-49G>C | ENSP00000388333.2:n.683-49G>C | |
| ENST00000462797.5:c.929-49G>C | ENSP00000473773.1:n.929-49G>C | |
| ENST00000465417.5:n.113-49G>C | ||
| ENST00000467774.1:n.211-49G>C | ||
| ENST00000486825.6:c.834-49G>C | ||
| ENST00000489945.5:c.*347-49G>C | ENSP00000473745.1:n.*347-49G>C | |
| ENST00000491865.5:n.164-49G>C | ||
| ENST00000492612.6:c.773-49G>C | ||
| ENST00000495175.6:c.*351-49G>C | ENSP00000474264.1:n.*351-49G>C | |
| ENST00000537440.5:c.17-49G>C | ENSP00000437700.1:n.17-49G>C | |
| ENST00000541099.5:c.-140-2706G>C | ENSP00000437896.1:n.-140-2706G>C | |
| NM_001312691.1:c.928+202G>C | NP_001299620.1:n.928+202G>C | |
| NM_001312692.1:c.683-49G>C | NP_001299621.1:n.683-49G>C | |
| NM_017646.4:c.929-49G>C | NP_060116.2:n.929-49G>C | |
| NM_017646.5:c.929-49G>C | NP_060116.2:n.929-49G>C | |
| NR_132401.1:n.945-49G>C | ||
| NR_132402.1:n.803-49G>C | ||
| NR_132403.1:n.799-49G>C | ||
| NR_132404.1:n.799-49G>C | ||
| NR_132405.1:n.795-49G>C | ||
| NR_132406.1:n.686-49G>C | ||
| NR_132407.1:n.563-49G>C | ||
| NR_132408.1:n.559-49G>C | ||
| NR_132409.1:n.420-49G>C | ||
| NR_132410.1:n.446-49G>C | ||
| NR_132412.1:n.307-49G>C | ||
| NR_132413.1:n.195-2706G>C | ||
| NR_132414.1:n.195-5433G>C | ||
| NR_132415.1:n.1036-49G>C | ||
| XM_005270954.1:c.686-49G>C | XP_005271011.1:n.686-49G>C | |
| XM_006710706.1:c.506-49G>C | XP_006710769.1:n.506-49G>C | |
| XM_005270954.2:c.686-49G>C | XP_005271011.1:n.686-49G>C | |
| XR_946672.2:n.1029-49G>C | ||
| NM_017646.6:c.929-49G>C MANE Select | NP_060116.2:n.929-49G>C |