Linked Data
ClinVar Variation Id:
809161
dbSNP Id:
rs760471205
ExAC:
2:219678801 G / C
gnomAD v2:
2-219678801-G-C
gnomAD v4:
2-218814078-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814078G>C , CM000664.2:g.218814078G>C | GRCh38 |
| NC_000002.11:g.219678801G>C , CM000664.1:g.219678801G>C | GRCh37 |
| NC_000002.10:g.219387045G>C | NCBI36 |
| NG_007959.1:g.37330G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1075G>C MANE Select | ENSP00000258415.4:p.Glu359Gln | |
| ENST00000258415.8:c.1075G>C | ENSP00000258415.4:p.Glu359Gln | |
| ENST00000466602.1:n.1197G>C | ||
| ENST00000494263.5:n.1509G>C | ||
| NM_000784.3:c.1075G>C | NP_000775.1:p.Glu359Gln | |
| XM_017003488.2:c.655G>C | XP_016858977.1:p.Glu219Gln | |
| NM_000784.4:c.1075G>C MANE Select | NP_000775.1:p.Glu359Gln |