Linked Data
ClinVar Variation Id:
1509730
ClinVar RCV Id:
RCV002018118
dbSNP Id:
rs2103922689
gnomAD v4:
2-42048746-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.42048746G>A , CM000664.2:g.42048746G>A | GRCh38 |
| NC_000002.11:g.42275886G>A , CM000664.1:g.42275886G>A | GRCh37 |
| NC_000002.10:g.42129390G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294964.6:c.547G>A MANE Select | ENSP00000294964.5:p.Gly183Arg | |
| ENST00000294964.5:c.547G>A | ENSP00000294964.5:p.Gly183Arg | |
| ENST00000401498.6:c.405G>A | ENSP00000385220.2:p.Ser135= | |
| ENST00000485578.1:n.168G>A | ||
| NM_138370.2:c.547G>A | NP_612379.2:p.Gly183Arg | |
| NM_138370.3:c.547G>A MANE Select | NP_612379.2:p.Gly183Arg |