Linked Data
ClinVar Variation Id:
212736
dbSNP Id:
rs779423223
ExAC:
22:42461895 G / T
gnomAD v2:
22-42461895-G-T
gnomAD v4:
22-42065891-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42065891G>T , CM000684.2:g.42065891G>T | GRCh38 |
| NC_000022.10:g.42461895G>T , CM000684.1:g.42461895G>T | GRCh37 |
| NC_000022.9:g.40791841G>T | NCBI36 |
| NG_009247.1:g.9952C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396398.8:c.606C>A MANE Select | ENSP00000379680.3:p.Tyr202Ter | |
| ENST00000396398.7:c.606C>A | ENSP00000379680.3:p.Tyr202Ter | |
| ENST00000402937.1:c.606C>A | ENSP00000384603.1:p.Tyr202Ter | |
| ENST00000403363.5:c.606C>A | ENSP00000385283.1:p.Tyr202Ter | |
| NM_000262.2:c.606C>A | NP_000253.1:p.Tyr202Ter | |
| XM_005261615.3:c.606C>A | XP_005261672.1:p.Tyr202Ter | |
| XM_005261616.3:c.606C>A | XP_005261673.1:p.Tyr202Ter | |
| NM_001362848.1:c.606C>A | NP_001349777.1:p.Tyr202Ter | |
| NM_001362850.1:c.606C>A | NP_001349779.1:p.Tyr202Ter | |
| NM_000262.3:c.606C>A MANE Select | NP_000253.1:p.Tyr202Ter |