Linked Data
ClinVar Variation Id:
1366875
ClinVar RCV Id:
RCV001932353
dbSNP Id:
rs376536556
ExAC:
3:131206558 G / A
gnomAD v2:
3-131206558-G-A
gnomAD v3:
3-131487714-G-A
gnomAD v4:
3-131487714-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.131487714G>A , CM000665.2:g.131487714G>A | GRCh38 |
| NC_000003.11:g.131206558G>A , CM000665.1:g.131206558G>A | GRCh37 |
| NC_000003.10:g.132689248G>A | NCBI36 |
| NG_029207.1:g.20303C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264995.8:c.595C>T MANE Select | ENSP00000264995.2:p.Arg199Cys | |
| ENST00000264995.7:c.595C>T | ENSP00000264995.2:p.Arg199Cys | |
| ENST00000425847.6:c.676C>T | ENSP00000398536.2:p.Arg226Cys | |
| ENST00000506487.1:n.70C>T | ||
| ENST00000507669.5:c.280C>T | ENSP00000422419.1:p.Arg94Cys | |
| ENST00000511168.5:c.638C>T | ||
| ENST00000512877.1:c.496C>T | ENSP00000422035.1:p.Arg166Cys | |
| NM_007208.3:c.595C>T | NP_009139.1:p.Arg199Cys | |
| NM_007208.4:c.595C>T MANE Select | NP_009139.1:p.Arg199Cys |