Linked Data
ClinVar Variation Id:
1392470
ClinVar RCV Id:
RCV001896238
dbSNP Id:
rs1345718044
gnomAD v2:
1-27023279-A-T
gnomAD v3:
1-26696788-A-T
gnomAD v4:
1-26696788-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696788A>T , CM000663.2:g.26696788A>T | GRCh38 |
| NC_000001.10:g.27023279A>T , CM000663.1:g.27023279A>T | GRCh37 |
| NC_000001.9:g.26895866A>T | NCBI36 |
| NG_029965.1:g.5758A>T , LRG_875:g.5758A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.385A>T MANE Select | ENSP00000320485.7:p.Ser129Cys | |
| ENST00000430799.7:c.-13+3171A>T | ENSP00000390317.3:n.-13+3171A>T | |
| ENST00000637465.1:c.-13+688A>T | ENSP00000490650.1:n.-13+688A>T | |
| ENST00000324856.11:c.385A>T | ENSP00000320485.7:p.Ser129Cys | |
| ENST00000457599.6:c.385A>T | ENSP00000387636.2:p.Ser129Cys | |
| NM_006015.4:c.385A>T , LRG_875t1:c.385A>T | NP_006006.3:p.Ser129Cys | |
| NM_139135.2:c.385A>T | NP_624361.1:p.Ser129Cys | |
| NM_006015.5:c.385A>T | NP_006006.3:p.Ser129Cys | |
| NM_139135.3:c.385A>T | NP_624361.1:p.Ser129Cys | |
| NM_006015.6:c.385A>T MANE Select | NP_006006.3:p.Ser129Cys | |
| NM_139135.4:c.385A>T | NP_624361.1:p.Ser129Cys |