Linked Data
ClinVar Variation Id:
1347167
ClinVar RCV Id:
RCV002050530
dbSNP Id:
rs1469943078
gnomAD v2:
1-27023255-C-T
gnomAD v4:
1-26696764-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696764C>T , CM000663.2:g.26696764C>T | GRCh38 |
| NC_000001.10:g.27023255C>T , CM000663.1:g.27023255C>T | GRCh37 |
| NC_000001.9:g.26895842C>T | NCBI36 |
| NG_029965.1:g.5734C>T , LRG_875:g.5734C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.361C>T MANE Select | ENSP00000320485.7:p.Pro121Ser | |
| ENST00000430799.7:c.-13+3147C>T | ENSP00000390317.3:n.-13+3147C>T | |
| ENST00000637465.1:c.-13+664C>T | ENSP00000490650.1:n.-13+664C>T | |
| ENST00000324856.11:c.361C>T | ENSP00000320485.7:p.Pro121Ser | |
| ENST00000457599.6:c.361C>T | ENSP00000387636.2:p.Pro121Ser | |
| NM_006015.4:c.361C>T , LRG_875t1:c.361C>T | NP_006006.3:p.Pro121Ser | |
| NM_139135.2:c.361C>T | NP_624361.1:p.Pro121Ser | |
| NM_006015.5:c.361C>T | NP_006006.3:p.Pro121Ser | |
| NM_139135.3:c.361C>T | NP_624361.1:p.Pro121Ser | |
| NM_006015.6:c.361C>T MANE Select | NP_006006.3:p.Pro121Ser | |
| NM_139135.4:c.361C>T | NP_624361.1:p.Pro121Ser |