Linked Data
ClinVar Variation Id:
2277799
ClinVar RCV Id:
RCV002844212
dbSNP Id:
rs757842359
gnomAD v3:
4-786632-C-A
gnomAD v4:
4-786632-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.786632C>A , CM000666.2:g.786632C>A | GRCh38 |
| NC_000004.11:g.780420C>A , CM000666.1:g.780420C>A | GRCh37 |
| NC_000004.10:g.770420C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304062.11:c.274G>T MANE Select | ENSP00000305613.6:p.Gly92Trp | |
| ENST00000304062.10:c.274G>T | ENSP00000305613.6:p.Gly92Trp | |
| ENST00000504062.1:c.229G>T | ENSP00000421947.1:p.Gly77Trp | |
| ENST00000505203.1:c.211G>T | ENSP00000425960.1:p.Gly71Trp | |
| ENST00000506404.1:n.327G>T | ||
| NM_006651.3:c.274G>T | NP_006642.1:p.Gly92Trp | |
| XM_011513391.1:c.229G>T | XP_011511693.1:p.Gly77Trp | |
| NM_006651.4:c.274G>T MANE Select | NP_006642.1:p.Gly92Trp |