Linked Data
ClinVar Variation Id:
449100
dbSNP Id:
rs752254977
ExAC:
11:20622680 C / A
gnomAD v2:
11-20622680-C-A
gnomAD v3:
11-20601134-C-A
gnomAD v4:
11-20601134-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20601134C>A , CM000673.2:g.20601134C>A | GRCh38 |
| NC_000011.9:g.20622680C>A , CM000673.1:g.20622680C>A | GRCh37 |
| NC_000011.8:g.20579256C>A | NCBI36 |
| NG_013086.1:g.6735C>A | |
| NG_013086.2:g.6735C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.9C>A MANE Select | ENSP00000434364.2:p.Cys3Ter | |
| ENST00000298923.11:c.9C>A | ENSP00000298923.7:p.Cys3Ter | |
| ENST00000525748.5:c.9C>A | ENSP00000434364.1:p.Cys3Ter | |
| NM_004211.3:c.9C>A | NP_004202.2:p.Cys3Ter | |
| XM_005253225.1:c.-555C>A | XP_005253282.1:n.-555C>A | |
| XM_011520473.1:c.9C>A | XP_011518775.1:p.Cys3Ter | |
| NM_001318369.1:c.-555C>A | NP_001305298.1:n.-555C>A | |
| NM_004211.4:c.9C>A | NP_004202.3:p.Cys3Ter | |
| XM_017018545.2:c.-57+1459C>A | XP_016874034.1:n.-57+1459C>A | |
| NM_001318369.2:c.-555C>A | NP_001305298.1:n.-555C>A | |
| NM_004211.5:c.9C>A MANE Select | NP_004202.4:p.Cys3Ter |