Linked Data
ClinVar Variation Id:
864387
ClinVar RCV Id:
RCV001071564
dbSNP Id:
rs971032854
gnomAD v3:
3-179405340-G-A
gnomAD v4:
3-179405340-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179405340G>A , CM000665.2:g.179405340G>A | GRCh38 |
| NC_000003.11:g.179123128G>A , CM000665.1:g.179123128G>A | GRCh37 |
| NC_000003.10:g.180605822G>A | NCBI36 |
| NG_033163.1:g.51244C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232564.8:c.766C>T MANE Select | ENSP00000232564.3:p.Arg256Cys | |
| ENST00000466899.6:c.700-4021C>T | ENSP00000420066.2:n.700-4021C>T | |
| ENST00000468623.6:c.727C>T | ENSP00000419693.2:p.Arg243Cys | |
| ENST00000674713.1:c.658C>T | ENSP00000502144.1:p.Arg220Cys | |
| ENST00000674862.1:c.766C>T | ENSP00000502628.1:p.Arg256Cys | |
| ENST00000674927.1:c.766C>T | ENSP00000501774.1:p.Arg256Cys | |
| ENST00000675901.1:c.766C>T | ENSP00000501992.1:p.Arg256Cys | |
| ENST00000676128.1:c.766C>T | ENSP00000501882.1:p.Arg256Cys | |
| ENST00000232564.7:c.766C>T | ENSP00000232564.3:p.Arg256Cys | |
| ENST00000466899.5:c.467-4021C>T | ||
| ENST00000468623.5:c.766C>T | ENSP00000419693.1:p.Arg256Cys | |
| NM_021629.3:c.766C>T | NP_067642.1:p.Arg256Cys | |
| XM_005247692.1:c.766C>T | XP_005247749.1:p.Arg256Cys | |
| XM_006713721.1:c.766C>T | XP_006713784.1:p.Arg256Cys | |
| XM_005247692.2:c.766C>T | XP_005247749.1:p.Arg256Cys | |
| XM_006713721.2:c.766C>T | XP_006713784.1:p.Arg256Cys | |
| NM_021629.4:c.766C>T MANE Select | NP_067642.1:p.Arg256Cys |