Linked Data
ClinVar Variation Id:
12098
ClinVar RCV Id:
RCV000012879
dbSNP Id:
rs28934594
gnomAD v4:
16-67436620-C-T
PubMed:
PMID:9683587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436620C>T , CM000678.2:g.67436620C>T | GRCh38 |
| NC_000016.9:g.67470523C>T , CM000678.1:g.67470523C>T | GRCh37 |
| NC_000016.8:g.66028024C>T | NCBI36 |
| NG_011482.1:g.49567G>A | |
| NG_016549.1:g.10488C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326152.6:c.835C>T MANE Select | ENSP00000316786.5:p.Arg279Cys | |
| ENST00000326152.5:c.835C>T | ENSP00000316786.5:p.Arg279Cys | |
| NM_000196.3:c.835C>T | NP_000187.3:p.Arg279Cys | |
| NM_000196.4:c.835C>T MANE Select | NP_000187.3:p.Arg279Cys |