Linked Data
ClinVar Variation Id:
3070631
ClinVar RCV Id:
RCV004013141
dbSNP Id:
rs1644616214
gnomAD v4:
1-55043973-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55043973A>G , CM000663.2:g.55043973A>G | GRCh38 |
| NC_000001.10:g.55509646A>G , CM000663.1:g.55509646A>G | GRCh37 |
| NC_000001.9:g.55282234A>G | NCBI36 |
| NG_009061.1:g.9427A>G , LRG_275:g.9427A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.338A>G | ENSP00000501161.2:p.His113Arg | |
| ENST00000710286.1:c.695A>G | ENSP00000518176.1:p.His232Arg | |
| ENST00000673662.1:n.8A>G | ||
| ENST00000673726.1:c.338A>G | ENSP00000501004.1:p.His113Arg | |
| ENST00000673903.1:c.-38A>G | ENSP00000501257.1:n.-38A>G | |
| ENST00000302118.5:c.338A>G MANE Select | ENSP00000303208.5:p.His113Arg | |
| NM_174936.3:c.338A>G , LRG_275t1:c.338A>G | NP_777596.2:p.His113Arg | |
| NR_110451.1:n.182+3570A>G | ||
| NM_174936.4:c.338A>G MANE Select | NP_777596.2:p.His113Arg | |
| NR_110451.2:n.182+3570A>G |