Linked Data
ClinVar Variation Id:
2896353
ClinVar RCV Id:
RCV003750647
dbSNP Id:
rs762732871
ExAC:
17:7357853 C / T
gnomAD v3:
17-7454534-C-T
gnomAD v4:
17-7454534-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454534C>T , CM000679.2:g.7454534C>T | GRCh38 |
| NC_000017.10:g.7357853C>T , CM000679.1:g.7357853C>T | GRCh37 |
| NC_000017.9:g.7298577C>T | NCBI36 |
| NG_008026.1:g.14448C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1044+14C>T MANE Select | ENSP00000304290.2:n.1044+14C>T | |
| ENST00000306071.6:c.1044+14C>T | ENSP00000304290.2:n.1044+14C>T | |
| ENST00000536404.6:c.828+14C>T | ENSP00000439209.2:n.828+14C>T | |
| ENST00000570557.5:c.707+14C>T | ||
| ENST00000573209.1:n.1988+14C>T | ||
| ENST00000576360.1:c.681+14C>T | ENSP00000459092.1:n.681+14C>T | |
| NM_000747.2:c.1044+14C>T | NP_000738.2:n.1044+14C>T | |
| NM_000747.3:c.1044+14C>T MANE Select | NP_000738.2:n.1044+14C>T |