Linked Data
ClinVar Variation Id:
8344
ClinVar RCV Id:
RCV000008849
dbSNP Id:
rs121909267
PubMed:
PMID:12241879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122257288C>G , CM000665.2:g.122257288C>G | GRCh38 |
| NC_000003.11:g.121976135C>G , CM000665.1:g.121976135C>G | GRCh37 |
| NC_000003.10:g.123458825C>G | NCBI36 |
| NG_009058.1:g.78606C>G | |
| NG_009058.2:g.78621C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490131.7:c.393C>G | ENSP00000418685.2:p.Cys131Trp | |
| ENST00000498619.4:c.393C>G | ENSP00000420194.1:p.Cys131Trp | |
| ENST00000638296.1:n.312C>G | ||
| ENST00000638421.1:c.393C>G | ENSP00000492190.1:p.Cys131Trp | |
| ENST00000639785.2:c.393C>G MANE Select | ENSP00000491584.2:p.Cys131Trp | |
| ENST00000490131.5:c.393C>G | ENSP00000418685.1:p.Cys131Trp | |
| ENST00000490186.1:n.252C>G | ||
| ENST00000498619.2:c.393C>G | ENSP00000420194.1:p.Cys131Trp | |
| NM_000388.3:c.393C>G | NP_000379.2:p.Cys131Trp | |
| NM_001178065.1:c.393C>G | NP_001171536.1:p.Cys131Trp | |
| XM_005247836.2:c.393C>G | XP_005247893.1:p.Cys131Trp | |
| XM_005247837.2:c.9+2914C>G | XP_005247894.1:n.9+2914C>G | |
| XM_006713789.2:c.393C>G | XP_006713852.1:p.Cys131Trp | |
| XM_011513237.1:c.393C>G | XP_011511539.1:p.Cys131Trp | |
| XM_011513238.1:c.393C>G | XP_011511540.1:p.Cys131Trp | |
| XM_006713789.3:c.393C>G | XP_006713852.1:p.Cys131Trp | |
| XM_017007324.1:c.393C>G | XP_016862813.1:p.Cys131Trp | |
| XM_017007325.1:c.393C>G | XP_016862814.1:p.Cys131Trp | |
| NM_000388.4:c.393C>G MANE Select | NP_000379.3:p.Cys131Trp | |
| NM_001178065.2:c.393C>G | NP_001171536.2:p.Cys131Trp |