Linked Data
ClinVar Variation Id:
776283
ClinVar RCV Id:
RCV000956557
dbSNP Id:
rs113837602
ExAC:
8:6783453 C / G
gnomAD v2:
8-6783453-C-G
gnomAD v3:
8-6925931-C-G
gnomAD v4:
8-6925931-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6925931C>G , CM000670.2:g.6925931C>G | GRCh38 |
| NC_000008.10:g.6783453C>G , CM000670.1:g.6783453C>G | GRCh37 |
| NC_000008.9:g.6770863C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297436.3:c.105G>C MANE Select | ENSP00000297436.2:p.Glu35Asp | |
| ENST00000297436.2:c.105G>C | ENSP00000297436.2:p.Glu35Asp | |
| NM_001926.3:c.105G>C | NP_001917.1:p.Glu35Asp | |
| NM_001926.4:c.105G>C MANE Select | NP_001917.1:p.Glu35Asp |