Linked Data
ClinVar Variation Id:
18165
dbSNP Id:
rs121434532
ExAC:
22:42463140 G / C
gnomAD v2:
22-42463140-G-C
gnomAD v3:
22-42067136-G-C
gnomAD v4:
22-42067136-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42067136G>C , CM000684.2:g.42067136G>C | GRCh38 |
| NC_000022.10:g.42463140G>C , CM000684.1:g.42463140G>C | GRCh37 |
| NC_000022.9:g.40793086G>C | NCBI36 |
| NG_009247.1:g.8707C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396398.8:c.479C>G MANE Select | ENSP00000379680.3:p.Ser160Cys | |
| ENST00000396398.7:c.479C>G | ENSP00000379680.3:p.Ser160Cys | |
| ENST00000402937.1:c.479C>G | ENSP00000384603.1:p.Ser160Cys | |
| ENST00000403363.5:c.479C>G | ENSP00000385283.1:p.Ser160Cys | |
| NM_000262.2:c.479C>G | NP_000253.1:p.Ser160Cys | |
| XM_005261615.3:c.479C>G | XP_005261672.1:p.Ser160Cys | |
| XM_005261616.3:c.479C>G | XP_005261673.1:p.Ser160Cys | |
| NM_001362848.1:c.479C>G | NP_001349777.1:p.Ser160Cys | |
| NM_001362850.1:c.479C>G | NP_001349779.1:p.Ser160Cys | |
| NM_000262.3:c.479C>G MANE Select | NP_000253.1:p.Ser160Cys |