Linked Data
ClinVar Variation Id:
2270045
ClinVar RCV Id:
RCV002804472
dbSNP Id:
rs371543948
gnomAD v2:
1-206224630-C-T
gnomAD v3:
1-206116701-G-A
gnomAD v4:
1-206116701-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206116701G>A , CM000663.2:g.206116701G>A | GRCh38 |
| NC_000001.10:g.206224630C>T , CM000663.1:g.206224630C>T | GRCh37 |
| NC_000001.9:g.204391253C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367126.5:c.190C>T MANE Select | ENSP00000356094.4:p.Arg64Cys | |
| ENST00000367126.4:c.190C>T | ENSP00000356094.4:p.Arg64Cys | |
| ENST00000612906.1:n.36+963C>T | ||
| NM_000707.3:c.190C>T | NP_000698.1:p.Arg64Cys | |
| NM_000707.4:c.190C>T | NP_000698.1:p.Arg64Cys | |
| NM_000707.5:c.190C>T MANE Select | NP_000698.1:p.Arg64Cys |