Linked Data
ClinVar Variation Id:
2535082
ClinVar RCV Id:
RCV003260775
dbSNP Id:
rs757312156
ExAC:
22:42462728 C / T
gnomAD v2:
22-42462728-C-T
gnomAD v4:
22-42066724-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42066724C>T , CM000684.2:g.42066724C>T | GRCh38 |
| NC_000022.10:g.42462728C>T , CM000684.1:g.42462728C>T | GRCh37 |
| NC_000022.9:g.40792674C>T | NCBI36 |
| NG_009247.1:g.9119G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396398.8:c.583G>A MANE Select | ENSP00000379680.3:p.Gly195Ser | |
| ENST00000396398.7:c.583G>A | ENSP00000379680.3:p.Gly195Ser | |
| ENST00000402937.1:c.583G>A | ENSP00000384603.1:p.Gly195Ser | |
| ENST00000403363.5:c.583G>A | ENSP00000385283.1:p.Gly195Ser | |
| NM_000262.2:c.583G>A | NP_000253.1:p.Gly195Ser | |
| XM_005261615.3:c.583G>A | XP_005261672.1:p.Gly195Ser | |
| XM_005261616.3:c.583G>A | XP_005261673.1:p.Gly195Ser | |
| NM_001362848.1:c.583G>A | NP_001349777.1:p.Gly195Ser | |
| NM_001362850.1:c.583G>A | NP_001349779.1:p.Gly195Ser | |
| NM_000262.3:c.583G>A MANE Select | NP_000253.1:p.Gly195Ser |