Linked Data
ClinVar Variation Id:
1683868
ClinVar RCV Id:
RCV002244390
dbSNP Id:
rs148095450
gnomAD v2:
3-189374597-C-T
gnomAD v3:
3-189656808-C-T
gnomAD v4:
3-189656808-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189656808C>T , CM000665.2:g.189656808C>T | GRCh38 |
| NC_000003.11:g.189374597C>T , CM000665.1:g.189374597C>T | GRCh37 |
| NC_000003.10:g.190857291C>T | NCBI36 |
| NG_007550.1:g.30382C>T | |
| NG_007550.2:g.30382C>T | |
| NG_007550.3:g.65063C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264731.8:c.62+25231C>T MANE Select | ENSP00000264731.3:n.62+25231C>T | |
| ENST00000264731.7:c.62+25231C>T | ENSP00000264731.3:n.62+25231C>T | |
| ENST00000320472.9:c.62+25231C>T | ENSP00000317510.5:n.62+25231C>T | |
| ENST00000392460.7:c.62+25231C>T | ENSP00000376253.3:n.62+25231C>T | |
| ENST00000418709.6:c.62+25231C>T | ENSP00000407144.2:n.62+25231C>T | |
| ENST00000440651.6:c.62+25231C>T | ENSP00000394337.2:n.62+25231C>T | |
| ENST00000486398.1:n.162+25231C>T | ||
| NM_001114978.1:c.62+25231C>T | NP_001108450.1:n.62+25231C>T | |
| NM_001114979.1:c.62+25231C>T | NP_001108451.1:n.62+25231C>T | |
| NM_003722.4:c.62+25231C>T | NP_003713.3:n.62+25231C>T | |
| XM_005247843.2:c.62+25231C>T | XP_005247900.1:n.62+25231C>T | |
| XM_005247844.3:c.11+25533C>T | XP_005247901.1:n.11+25533C>T | |
| XM_005247846.2:c.62+25231C>T | XP_005247903.1:n.62+25231C>T | |
| XM_011513251.1:c.59+33491C>T | XP_011511553.1:n.59+33491C>T | |
| XM_011513252.1:c.56+59570C>T | XP_011511554.1:n.56+59570C>T | |
| XM_011513253.1:c.24-80932C>T | XP_011511555.1:n.24-80932C>T | |
| NM_001329144.1:c.62+25231C>T | NP_001316073.1:n.62+25231C>T | |
| NM_001329148.1:c.62+25231C>T | NP_001316077.1:n.62+25231C>T | |
| NM_001329964.1:c.56+59570C>T | NP_001316893.1:n.56+59570C>T | |
| NM_003722.5:c.62+25231C>T MANE Select | NP_003713.3:n.62+25231C>T | |
| NM_001114978.2:c.62+25231C>T | NP_001108450.1:n.62+25231C>T | |
| NM_001114979.2:c.62+25231C>T | NP_001108451.1:n.62+25231C>T | |
| NM_001329144.2:c.62+25231C>T | NP_001316073.1:n.62+25231C>T | |
| NM_001329148.2:c.62+25231C>T | NP_001316077.1:n.62+25231C>T | |
| NM_001329964.2:c.56+59570C>T | NP_001316893.1:n.56+59570C>T |