Linked Data
ClinVar Variation Id:
30546
ClinVar RCV Id:
RCV000023503
dbSNP Id:
rs139004722
ExAC:
17:16221214 C / T
gnomAD v2:
17-16221214-C-T
gnomAD v3:
17-16317900-C-T
gnomAD v4:
17-16317900-C-T
PubMed:
PMID:22444671
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16317900C>T , CM000679.2:g.16317900C>T | GRCh38 |
| NC_000017.10:g.16221214C>T , CM000679.1:g.16221214C>T | GRCh37 |
| NC_000017.9:g.16161939C>T | NCBI36 |
| NG_032651.1:g.105706C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225609.10:c.652C>T MANE Select | ENSP00000225609.5:p.Gln218Ter | |
| ENST00000225609.9:c.652C>T | ENSP00000225609.5:p.Gln218Ter | |
| ENST00000395844.8:c.620C>T | ENSP00000379185.3:p.Thr207Ile | |
| ENST00000477745.5:n.650C>T | ||
| ENST00000488375.2:n.510C>T | ||
| ENST00000581006.5:c.426+17922C>T | ENSP00000462432.1:n.426+17922C>T | |
| ENST00000596678.2:c.194C>T | ENSP00000470064.2:p.Thr65Ile | |
| ENST00000613719.1:n.987+212C>T | ||
| NM_004278.3:c.652C>T | NP_004269.1:p.Gln218Ter | |
| XR_243571.2:n.1650C>T | ||
| XM_017025349.1:c.*816C>T | XP_016880838.1:n.*816C>T | |
| XM_017025350.1:c.*816C>T | XP_016880839.1:n.*816C>T | |
| XM_017025352.1:c.652C>T | XP_016880841.1:p.Gln218Ter | |
| XM_017025353.1:c.652C>T | XP_016880842.1:p.Gln218Ter | |
| XM_017025354.1:c.620C>T | XP_016880843.1:p.Thr207Ile | |
| XM_017025355.1:c.620C>T | XP_016880844.1:p.Thr207Ile | |
| XM_017025356.1:c.*1129C>T | XP_016880845.1:n.*1129C>T | |
| NM_004278.4:c.652C>T MANE Select | NP_004269.1:p.Gln218Ter |