Linked Data
ClinVar Variation Id:
787906
ClinVar RCV Id:
RCV000970224
dbSNP Id:
rs35462253
ExAC:
11:27016265 C / T
gnomAD v2:
11-27016265-C-T
gnomAD v3:
11-26994718-C-T
gnomAD v4:
11-26994718-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.26994718C>T , CM000673.2:g.26994718C>T | GRCh38 |
| NC_000011.9:g.27016265C>T , CM000673.1:g.27016265C>T | GRCh37 |
| NC_000011.8:g.26972841C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318627.4:c.192C>T MANE Select | ENSP00000321962.2:p.Cys64= | |
| ENST00000318627.3:c.192C>T | ENSP00000321962.2:p.Cys64= | |
| NM_203371.1:c.192C>T | NP_976249.1:p.Cys64= | |
| NM_203371.2:c.192C>T MANE Select | NP_976249.1:p.Cys64= |