Linked Data
ClinVar Variation Id:
12093
ClinVar RCV Id:
RCV000012874
dbSNP Id:
rs121917780
ExAC:
16:67470003 C / T
gnomAD v2:
16-67470003-C-T
gnomAD v4:
16-67436100-C-T
PubMed:
PMID:7670488
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436100C>T , CM000678.2:g.67436100C>T | GRCh38 |
| NC_000016.9:g.67470003C>T , CM000678.1:g.67470003C>T | GRCh37 |
| NC_000016.8:g.66027504C>T | NCBI36 |
| NG_011482.1:g.50087G>A | |
| NG_016549.1:g.9968C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.622C>T MANE Select | ENSP00000316786.5:p.Arg208Cys | |
| ENST00000326152.5:c.622C>T | ENSP00000316786.5:p.Arg208Cys | |
| ENST00000566606.1:c.600C>T | ENSP00000473429.1:n.600C>T | |
| ENST00000567684.2:n.485C>T | ||
| NM_000196.3:c.622C>T | NP_000187.3:p.Arg208Cys | |
| NM_000196.4:c.622C>T MANE Select | NP_000187.3:p.Arg208Cys |