Linked Data
ClinVar Variation Id:
12094
ClinVar RCV Id:
RCV000012875
dbSNP Id:
rs28934591
gnomAD v4:
16-67436115-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436115C>T , CM000678.2:g.67436115C>T | GRCh38 |
| NC_000016.9:g.67470018C>T , CM000678.1:g.67470018C>T | GRCh37 |
| NC_000016.8:g.66027519C>T | NCBI36 |
| NG_011482.1:g.50072G>A | |
| NG_016549.1:g.9983C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.637C>T MANE Select | ENSP00000316786.5:p.Arg213Cys | |
| ENST00000326152.5:c.637C>T | ENSP00000316786.5:p.Arg213Cys | |
| ENST00000566606.1:c.615C>T | ENSP00000473429.1:n.615C>T | |
| ENST00000567684.2:n.500C>T | ||
| NM_000196.3:c.637C>T | NP_000187.3:p.Arg213Cys | |
| NM_000196.4:c.637C>T MANE Select | NP_000187.3:p.Arg213Cys |