Linked Data
ClinVar Variation Id:
212523
dbSNP Id:
rs797046083
gnomAD v2:
11-88911779-C-T
gnomAD v3:
11-89178611-C-T
gnomAD v4:
11-89178611-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178611C>T , CM000673.2:g.89178611C>T | GRCh38 |
| NC_000011.9:g.88911779C>T , CM000673.1:g.88911779C>T | GRCh37 |
| NC_000011.8:g.88551427C>T | NCBI36 |
| NG_008748.1:g.5740C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.658C>T MANE Select | ENSP00000263321.4:p.Gln220Ter | |
| ENST00000263321.5:c.658C>T | ENSP00000263321.4:p.Gln220Ter | |
| ENST00000526139.1:n.719C>T | ||
| NM_000372.4:c.658C>T | NP_000363.1:p.Gln220Ter | |
| XM_011542970.1:c.658C>T | XP_011541272.1:p.Gln220Ter | |
| XM_011542970.2:c.658C>T | XP_011541272.1:p.Gln220Ter | |
| XR_001748321.1:n.2718-65078G>A | ||
| XR_001748322.1:n.2733-65078G>A | ||
| NM_000372.5:c.658C>T MANE Select | NP_000363.1:p.Gln220Ter |