Linked Data
ClinVar Variation Id:
161194
ClinVar RCV Id:
RCV000148346
dbSNP Id:
rs606231453
gnomAD v2:
1-1470996-G-A
gnomAD v3:
1-1535616-G-A
gnomAD v4:
1-1535616-G-A
PubMed:
PMID:25070513
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535616G>A , CM000663.2:g.1535616G>A | GRCh38 |
| NC_000001.10:g.1470996G>A , CM000663.1:g.1470996G>A | GRCh37 |
| NC_000001.9:g.1460859G>A | NCBI36 |
| NG_041807.1:g.9745C>T | |
| NG_053035.1:g.28474G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.346C>T MANE Select | ENSP00000368007.4:p.Arg116Cys | |
| ENST00000378733.8:c.346C>T | ENSP00000368007.4:p.Arg116Cys | |
| ENST00000425828.1:c.346C>T | ENSP00000400311.1:p.Arg116Cys | |
| NM_001114748.1:c.346C>T | NP_001108220.1:p.Arg116Cys | |
| NM_001114748.2:c.346C>T MANE Select | NP_001108220.1:p.Arg116Cys |