Linked Data
ClinVar Variation Id:
2963711
ClinVar RCV Id:
RCV003825349
dbSNP Id:
rs756263733
ExAC:
3:87309119 C / T
gnomAD v2:
3-87309119-C-T
gnomAD v4:
3-87259969-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87259969C>T , CM000665.2:g.87259969C>T | GRCh38 |
| NC_000003.11:g.87309119C>T , CM000665.1:g.87309119C>T | GRCh37 |
| NC_000003.10:g.87391809C>T | NCBI36 |
| NG_008225.2:g.21619G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344265.8:c.879G>A | ENSP00000342931.3:p.Gln293= | |
| ENST00000350375.7:c.801G>A MANE Select | ENSP00000263781.2:p.Gln267= | |
| ENST00000344265.7:c.879G>A | ENSP00000342931.3:p.Gln293= | |
| ENST00000350375.6:c.801G>A | ENSP00000263781.2:p.Gln267= | |
| ENST00000560656.1:c.575G>A | ENSP00000452610.1:n.575G>A | |
| ENST00000561167.5:c.576G>A | ENSP00000454072.1:p.Gln192= | |
| NM_000306.3:c.801G>A | NP_000297.1:p.Gln267= | |
| NM_001122757.2:c.879G>A | NP_001116229.1:p.Gln293= | |
| NM_000306.4:c.801G>A MANE Select | NP_000297.1:p.Gln267= | |
| NM_001122757.3:c.879G>A | NP_001116229.1:p.Gln293= |