Linked Data
ClinVar Variation Id:
1685119
ClinVar RCV Id:
RCV002248211
dbSNP Id:
rs773859404
ExAC:
X:601805 C / T
gnomAD v2:
X-601805-C-T
gnomAD v4:
X-641070-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.641070C>T , CM000685.2:g.641070C>T | GRCh38 |
| NC_000023.10:g.601805C>T , CM000685.1:g.601805C>T | GRCh37 |
| NC_000023.9:g.521805C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686671.1:c.616C>T MANE Select | ENSP00000508521.1:p.Arg206Trp | |
| ENST00000334060.8:c.616C>T | ENSP00000335505.3:p.Arg206Trp | |
| ENST00000381575.6:c.616C>T | ENSP00000370987.1:p.Arg206Trp | |
| ENST00000381578.6:c.616C>T | ENSP00000370990.1:p.Arg206Trp | |
| ENST00000554971.6:c.616C>T | ENSP00000452016.1:p.Arg206Trp |