Linked Data
ClinVar Variation Id:
309807
dbSNP Id:
rs114663094
gnomAD v2:
12-56114181-C-T
gnomAD v3:
12-55720397-C-T
gnomAD v4:
12-55720397-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55720397C>T , CM000674.2:g.55720397C>T | GRCh38 |
| NC_000012.11:g.56114181C>T , CM000674.1:g.56114181C>T | GRCh37 |
| NC_000012.10:g.54400448C>T | NCBI36 |
| NG_008606.1:g.5031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257895.10:c.-153C>T MANE Select | ENSP00000257895.6:n.-153C>T | |
| ENST00000257899.3:c.325+1174C>T | ||
| ENST00000547072.5:c.-297C>T | ENSP00000449927.1:n.-297C>T | |
| ENST00000548486.1:n.5C>T | ||
| ENST00000549424.1:c.117+1174C>T | ENSP00000447621.1:n.117+1174C>T | |
| ENST00000550412.5:c.351+1174C>T | ENSP00000447650.1:n.351+1174C>T | |
| ENST00000551946.5:c.*113+1174C>T | ENSP00000450201.1:n.*113+1174C>T | |
| ENST00000552930.5:c.-356C>T | ENSP00000448014.1:n.-356C>T | |
| ENST00000553160.1:n.31C>T | ||
| ENST00000553187.5:n.5C>T | ||
| NM_001199771.1:c.-158C>T | NP_001186700.1:n.-158C>T | |
| NM_002905.3:c.-153C>T | NP_002896.2:n.-153C>T | |
| NR_037658.1:n.369+1174C>T | ||
| NM_001199771.2:c.-158C>T | NP_001186700.1:n.-158C>T | |
| NM_002905.5:c.-153C>T MANE Select | NP_002896.2:n.-153C>T | |
| NM_001199771.3:c.-158C>T | NP_001186700.1:n.-158C>T |