Linked Data
ClinVar Variation Id:
5397
ClinVar RCV Id:
RCV000005728
dbSNP Id:
rs267607228
gnomAD v2:
19-41119359-C-A
gnomAD v4:
19-40613453-C-A
PubMed:
PMID:19836010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40613453C>A , CM000681.2:g.40613453C>A | GRCh38 |
| NC_000019.9:g.41119359C>A , CM000681.1:g.41119359C>A | GRCh37 |
| NC_000019.8:g.45811199C>A | NCBI36 |
| NG_021201.1:g.25288C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396819.8:c.2481C>A MANE Select | ENSP00000380031.5:p.Cys827Ter | |
| ENST00000204005.13:c.2571C>A | ENSP00000204005.10:p.Cys857Ter | |
| ENST00000243562.13:c.680C>A | ||
| ENST00000308370.11:c.2682C>A | ENSP00000311905.8:p.Cys894Ter | |
| ENST00000396819.7:c.2481C>A | ENSP00000380031.4:p.Cys827Ter | |
| ENST00000546155.5:n.910C>A | ||
| ENST00000599724.5:c.6C>A | ENSP00000469785.1:p.Cys2Ter | |
| ENST00000600499.5:n.81C>A | ||
| ENST00000601032.5:c.376C>A | ||
| ENST00000610893.4:n.79C>A | ||
| ENST00000612121.4:c.112C>A | ||
| ENST00000612845.4:n.40C>A | ||
| NM_001042544.1:c.2682C>A | NP_001036009.1:p.Cys894Ter | |
| NM_001042545.1:c.2481C>A | NP_001036010.1:p.Cys827Ter | |
| NM_003573.2:c.2571C>A | NP_003564.2:p.Cys857Ter | |
| XM_011527376.1:c.2796C>A | XP_011525678.1:p.Cys932Ter | |
| XM_011527377.1:c.2715C>A | XP_011525679.1:p.Cys905Ter | |
| XM_011527378.1:c.2715C>A | XP_011525680.1:p.Cys905Ter | |
| XM_011527379.1:c.2595C>A | XP_011525681.1:p.Cys865Ter | |
| XM_011527380.1:c.2589C>A | XP_011525682.1:p.Cys863Ter | |
| XM_011527381.1:c.2715C>A | XP_011525683.1:p.Cys905Ter | |
| XM_011527382.1:c.2472C>A | XP_011525684.1:p.Cys824Ter | |
| XM_011527383.1:c.2715C>A | XP_011525685.1:p.Cys905Ter | |
| XM_011527384.1:c.2715C>A | XP_011525686.1:p.Cys905Ter | |
| XM_011527385.1:c.2715C>A | XP_011525687.1:p.Cys905Ter | |
| XM_011527386.1:c.2715C>A | XP_011525688.1:p.Cys905Ter | |
| XM_011527387.1:c.2073C>A | XP_011525689.1:p.Cys691Ter | |
| XM_011527376.2:c.2796C>A | XP_011525678.1:p.Cys932Ter | |
| XM_011527377.2:c.2715C>A | XP_011525679.1:p.Cys905Ter | |
| XM_011527378.2:c.2715C>A | XP_011525680.1:p.Cys905Ter | |
| XM_011527380.2:c.2589C>A | XP_011525682.1:p.Cys863Ter | |
| XM_011527381.2:c.2715C>A | XP_011525683.1:p.Cys905Ter | |
| XM_011527382.2:c.2472C>A | XP_011525684.1:p.Cys824Ter | |
| XM_011527383.2:c.2715C>A | XP_011525685.1:p.Cys905Ter | |
| XM_011527384.2:c.2715C>A | XP_011525686.1:p.Cys905Ter | |
| XM_011527385.2:c.2715C>A | XP_011525687.1:p.Cys905Ter | |
| XM_011527386.2:c.2715C>A | XP_011525688.1:p.Cys905Ter | |
| XM_017027352.1:c.2715C>A | XP_016882841.1:p.Cys905Ter | |
| XM_017027353.1:c.2715C>A | XP_016882842.1:p.Cys905Ter | |
| XM_017027354.1:c.2589C>A | XP_016882843.1:p.Cys863Ter | |
| NM_001042545.2:c.2481C>A MANE Select | NP_001036010.1:p.Cys827Ter |