Linked Data
ClinVar Variation Id:
2426176
ClinVar RCV Id:
RCV003119614
dbSNP Id:
rs201326871
ExAC:
12:4771805 C / T
gnomAD v2:
12-4771805-C-T
gnomAD v3:
12-4662639-C-T
gnomAD v4:
12-4662639-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4662639C>T , CM000674.2:g.4662639C>T | GRCh38 |
| NC_000012.11:g.4771805C>T , CM000674.1:g.4771805C>T | GRCh37 |
| NC_000012.10:g.4642066C>T | NCBI36 |
| NG_032124.1:g.18542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266544.10:c.655+4C>T MANE Select | ENSP00000266544.5:n.655+4C>T | |
| ENST00000648836.1:c.655+4C>T | ENSP00000497305.1:n.655+4C>T | |
| ENST00000266544.9:c.655+4C>T | ENSP00000266544.5:n.655+4C>T | |
| ENST00000396655.6:n.665+4C>T | ||
| ENST00000535726.5:n.911+4C>T | ||
| ENST00000536588.1:c.814C>T | ||
| ENST00000539573.5:n.418+4C>T | ||
| ENST00000543979.1:n.348+3462C>T | ||
| ENST00000544675.1:n.609+3462C>T | ||
| NM_005002.4:c.655+4C>T | NP_004993.1:n.655+4C>T | |
| NM_005002.5:c.655+4C>T MANE Select | NP_004993.1:n.655+4C>T |