Linked Data
ClinVar Variation Id:
383320
dbSNP Id:
rs151303014
ExAC:
17:7357859 C / T
gnomAD v2:
17-7357859-C-T
gnomAD v3:
17-7454540-C-T
gnomAD v4:
17-7454540-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454540C>T , CM000679.2:g.7454540C>T | GRCh38 |
| NC_000017.10:g.7357859C>T , CM000679.1:g.7357859C>T | GRCh37 |
| NC_000017.9:g.7298583C>T | NCBI36 |
| NG_008026.1:g.14454C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1044+20C>T MANE Select | ENSP00000304290.2:n.1044+20C>T | |
| ENST00000306071.6:c.1044+20C>T | ENSP00000304290.2:n.1044+20C>T | |
| ENST00000536404.6:c.828+20C>T | ENSP00000439209.2:n.828+20C>T | |
| ENST00000570557.5:c.707+20C>T | ||
| ENST00000573209.1:n.1988+20C>T | ||
| ENST00000576360.1:c.681+20C>T | ENSP00000459092.1:n.681+20C>T | |
| NM_000747.2:c.1044+20C>T | NP_000738.2:n.1044+20C>T | |
| NM_000747.3:c.1044+20C>T MANE Select | NP_000738.2:n.1044+20C>T |