Linked Data
ClinVar Variation Id:
1164337
ClinVar RCV Id:
RCV001510106
dbSNP Id:
rs4488809
gnomAD v2:
3-189356261-T-C
gnomAD v3:
3-189638472-T-C
gnomAD v4:
3-189638472-T-C
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189638472T>C , CM000665.2:g.189638472T>C | GRCh38 |
| NC_000003.11:g.189356261T>C , CM000665.1:g.189356261T>C | GRCh37 |
| NC_000003.10:g.190838955T>C | NCBI36 |
| NG_007550.1:g.12046T>C | |
| NG_007550.2:g.12046T>C | |
| NG_007550.3:g.46727T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264731.8:c.62+6895T>C MANE Select | ENSP00000264731.3:n.62+6895T>C | |
| ENST00000264731.7:c.62+6895T>C | ENSP00000264731.3:n.62+6895T>C | |
| ENST00000320472.9:c.62+6895T>C | ENSP00000317510.5:n.62+6895T>C | |
| ENST00000392460.7:c.62+6895T>C | ENSP00000376253.3:n.62+6895T>C | |
| ENST00000418709.6:c.62+6895T>C | ENSP00000407144.2:n.62+6895T>C | |
| ENST00000440651.6:c.62+6895T>C | ENSP00000394337.2:n.62+6895T>C | |
| ENST00000486398.1:n.162+6895T>C | ||
| NM_001114978.1:c.62+6895T>C | NP_001108450.1:n.62+6895T>C | |
| NM_001114979.1:c.62+6895T>C | NP_001108451.1:n.62+6895T>C | |
| NM_003722.4:c.62+6895T>C | NP_003713.3:n.62+6895T>C | |
| XM_005247843.2:c.62+6895T>C | XP_005247900.1:n.62+6895T>C | |
| XM_005247844.3:c.11+7197T>C | XP_005247901.1:n.11+7197T>C | |
| XM_005247846.2:c.62+6895T>C | XP_005247903.1:n.62+6895T>C | |
| XM_011513251.1:c.59+15155T>C | XP_011511553.1:n.59+15155T>C | |
| XM_011513252.1:c.56+41234T>C | XP_011511554.1:n.56+41234T>C | |
| XM_011513253.1:c.23+71577T>C | XP_011511555.1:n.23+71577T>C | |
| NM_001329144.1:c.62+6895T>C | NP_001316073.1:n.62+6895T>C | |
| NM_001329148.1:c.62+6895T>C | NP_001316077.1:n.62+6895T>C | |
| NM_001329964.1:c.56+41234T>C | NP_001316893.1:n.56+41234T>C | |
| NM_003722.5:c.62+6895T>C MANE Select | NP_003713.3:n.62+6895T>C | |
| NM_001114978.2:c.62+6895T>C | NP_001108450.1:n.62+6895T>C | |
| NM_001114979.2:c.62+6895T>C | NP_001108451.1:n.62+6895T>C | |
| NM_001329144.2:c.62+6895T>C | NP_001316073.1:n.62+6895T>C | |
| NM_001329148.2:c.62+6895T>C | NP_001316077.1:n.62+6895T>C | |
| NM_001329964.2:c.56+41234T>C | NP_001316893.1:n.56+41234T>C |