Linked Data
ClinVar Variation Id:
3011477
ClinVar RCV Id:
RCV003870140
dbSNP Id:
rs1839646857
gnomAD v4:
8-132873046-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132873046T>C , CM000670.2:g.132873046T>C | GRCh38 |
| NC_000008.10:g.133885291T>C , CM000670.1:g.133885291T>C | GRCh37 |
| NC_000008.9:g.133954473T>C | NCBI36 |
| NG_015832.1:g.11087T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.479-16T>C MANE Select | ENSP00000220616.4:n.479-16T>C | |
| ENST00000220616.8:c.479-16T>C | ENSP00000220616.4:n.479-16T>C | |
| ENST00000523901.1:c.*330-16T>C | ENSP00000427871.1:n.*330-16T>C | |
| NM_003235.4:c.479-16T>C | NP_003226.4:n.479-16T>C | |
| XM_005251038.3:c.479-16T>C | XP_005251095.1:n.479-16T>C | |
| XM_005251040.3:c.479-16T>C | XP_005251097.1:n.479-16T>C | |
| XM_005251042.3:c.479-16T>C | XP_005251099.1:n.479-16T>C | |
| XM_005251043.3:c.479-16T>C | XP_005251100.1:n.479-16T>C | |
| XM_006716622.2:c.479-16T>C | XP_006716685.1:n.479-16T>C | |
| XM_005251038.4:c.479-16T>C | XP_005251095.1:n.479-16T>C | |
| XM_005251040.4:c.479-16T>C | XP_005251097.1:n.479-16T>C | |
| XM_005251042.4:c.479-16T>C | XP_005251099.1:n.479-16T>C | |
| XM_006716622.3:c.479-16T>C | XP_006716685.1:n.479-16T>C | |
| XM_017013793.1:c.479-16T>C | XP_016869282.1:n.479-16T>C | |
| XM_017013794.1:c.479-16T>C | XP_016869283.1:n.479-16T>C | |
| XM_017013795.1:c.479-16T>C | XP_016869284.1:n.479-16T>C | |
| XM_017013796.1:c.479-16T>C | XP_016869285.1:n.479-16T>C | |
| XM_017013797.1:c.218-16T>C | XP_016869286.1:n.218-16T>C | |
| XM_017013798.1:c.479-16T>C | XP_016869287.1:n.479-16T>C | |
| XM_017013799.1:c.479-16T>C | XP_016869288.1:n.479-16T>C | |
| XM_017013800.1:c.479-16T>C | XP_016869289.1:n.479-16T>C | |
| NM_003235.5:c.479-16T>C MANE Select | NP_003226.4:n.479-16T>C |