Linked Data
ClinVar Variation Id:
6988
ClinVar RCV Id:
RCV003151709
dbSNP Id:
rs104894111
gnomAD v3:
9-97854218-C-T
gnomAD v4:
9-97854218-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854218C>T , CM000671.2:g.97854218C>T | GRCh38 |
| NC_000009.11:g.100616500C>T , CM000671.1:g.100616500C>T | GRCh37 |
| NC_000009.10:g.99656321C>T | NCBI36 |
| NG_011979.1:g.5964C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375123.5:c.304C>T MANE Select | ENSP00000364265.3:p.Arg102Cys | |
| ENST00000375123.4:c.304C>T | ENSP00000364265.3:p.Arg102Cys | |
| NM_004473.3:c.304C>T | NP_004464.2:p.Arg102Cys | |
| NM_004473.4:c.304C>T MANE Select | NP_004464.2:p.Arg102Cys |