Linked Data
ClinVar Variation Id:
3017927
ClinVar RCV Id:
RCV003874526
dbSNP Id:
rs761535567
ExAC:
17:7357754 C / T
gnomAD v2:
17-7357754-C-T
gnomAD v4:
17-7454435-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454435C>T , CM000679.2:g.7454435C>T | GRCh38 |
| NC_000017.10:g.7357754C>T , CM000679.1:g.7357754C>T | GRCh37 |
| NC_000017.9:g.7298478C>T | NCBI36 |
| NG_008026.1:g.14349C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.959C>T MANE Select | ENSP00000304290.2:p.Thr320Ile | |
| ENST00000306071.6:c.959C>T | ENSP00000304290.2:p.Thr320Ile | |
| ENST00000536404.6:c.743C>T | ENSP00000439209.2:p.Thr248Ile | |
| ENST00000570557.5:c.622C>T | ||
| ENST00000573209.1:n.1903C>T | ||
| ENST00000576360.1:c.605-9C>T | ENSP00000459092.1:n.605-9C>T | |
| NM_000747.2:c.959C>T | NP_000738.2:p.Thr320Ile | |
| NM_000747.3:c.959C>T MANE Select | NP_000738.2:p.Thr320Ile |