Linked Data
ClinVar Variation Id:
65898
dbSNP Id:
rs72551317
ExAC:
2:219677404 A / G
gnomAD v2:
2-219677404-A-G
gnomAD v3:
2-218812681-A-G
gnomAD v4:
2-218812681-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812681A>G , CM000664.2:g.218812681A>G | GRCh38 |
| NC_000002.11:g.219677404A>G , CM000664.1:g.219677404A>G | GRCh37 |
| NC_000002.10:g.219385648A>G | NCBI36 |
| NG_007959.1:g.35933A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.776A>G MANE Select | ENSP00000258415.4:p.Lys259Arg | |
| ENST00000258415.8:c.776A>G | ENSP00000258415.4:p.Lys259Arg | |
| ENST00000411688.1:c.494A>G | ENSP00000392671.1:p.Lys165Arg | |
| ENST00000445971.1:c.*237A>G | ENSP00000404945.1:n.*237A>G | |
| ENST00000466602.1:n.724A>G | ||
| ENST00000494263.5:n.1210A>G | ||
| NM_000784.3:c.776A>G | NP_000775.1:p.Lys259Arg | |
| XM_017003488.2:c.356A>G | XP_016858977.1:p.Lys119Arg | |
| NM_000784.4:c.776A>G MANE Select | NP_000775.1:p.Lys259Arg |