Linked Data
ClinVar Variation Id:
1324866
ClinVar RCV Id:
RCV001782586
dbSNP Id:
rs2100267180
gnomAD v4:
1-55043951-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55043951G>A , CM000663.2:g.55043951G>A | GRCh38 |
| NC_000001.10:g.55509624G>A , CM000663.1:g.55509624G>A | GRCh37 |
| NC_000001.9:g.55282212G>A | NCBI36 |
| NG_009061.1:g.9405G>A , LRG_275:g.9405G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.316G>A | ENSP00000501161.2:p.Gly106Arg | |
| ENST00000710286.1:c.673G>A | ENSP00000518176.1:p.Gly225Arg | |
| ENST00000673726.1:c.316G>A | ENSP00000501004.1:p.Gly106Arg | |
| ENST00000673903.1:c.-60G>A | ENSP00000501257.1:n.-60G>A | |
| ENST00000302118.5:c.316G>A MANE Select | ENSP00000303208.5:p.Gly106Arg | |
| NM_174936.3:c.316G>A , LRG_275t1:c.316G>A | NP_777596.2:p.Gly106Arg | |
| NR_110451.1:n.182+3548G>A | ||
| NM_174936.4:c.316G>A MANE Select | NP_777596.2:p.Gly106Arg | |
| NR_110451.2:n.182+3548G>A |