Linked Data
ClinVar Variation Id:
1765248
ClinVar RCV Id:
RCV002449896
dbSNP Id:
rs5992495
gnomAD v2:
22-19882984-T-A
gnomAD v3:
22-19895461-T-A
gnomAD v4:
22-19895461-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19895461T>A , CM000684.2:g.19895461T>A | GRCh38 |
| NC_000022.10:g.19882984T>A , CM000684.1:g.19882984T>A | GRCh37 |
| NC_000022.9:g.18262984T>A | NCBI36 |
| NG_011835.1:g.51376A>T , LRG_417:g.51376A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.895A>T MANE Select | ENSP00000383365.1:p.Ser299Cys | |
| ENST00000334363.14:c.895A>T | ENSP00000334451.9:p.Ser299Cys | |
| ENST00000400518.5:c.805A>T | ENSP00000383362.1:p.Ser269Cys | |
| ENST00000400519.6:c.892A>T | ENSP00000383363.1:p.Ser298Cys | |
| ENST00000400521.6:c.895A>T | ENSP00000383365.1:p.Ser299Cys | |
| ENST00000400525.6:c.826A>T | ENSP00000383369.3:p.Ser276Cys | |
| ENST00000474308.5:c.838A>T | ENSP00000485665.1:p.Ser280Cys | |
| ENST00000475995.3:c.392A>T | ||
| ENST00000491939.6:c.799A>T | ENSP00000485543.1:p.Ser267Cys | |
| ENST00000494454.5:n.969A>T | ||
| ENST00000542719.6:c.607A>T | ENSP00000485128.2:p.Ser203Cys | |
| ENST00000634537.1:c.124A>T | ENSP00000489208.1:p.Ser42Cys | |
| ENST00000635155.1:n.481A>T | ||
| NM_001282512.1:c.895A>T | NP_001269441.1:p.Ser299Cys | |
| NM_006440.4:c.895A>T | NP_006431.2:p.Ser299Cys | |
| NM_001282512.2:c.895A>T | NP_001269441.1:p.Ser299Cys | |
| NM_001352300.1:c.892A>T | NP_001339229.1:p.Ser298Cys | |
| NM_001352301.1:c.805A>T | NP_001339230.1:p.Ser269Cys | |
| NM_001352302.1:c.607A>T | NP_001339231.1:p.Ser203Cys | |
| NM_001352303.1:c.799A>T | NP_001339232.1:p.Ser267Cys | |
| NR_147957.1:n.1027A>T | ||
| NM_006440.5:c.895A>T MANE Select | NP_006431.2:p.Ser299Cys | |
| NM_001282512.3:c.895A>T | NP_001269441.1:p.Ser299Cys | |
| NM_001352300.2:c.892A>T | NP_001339229.1:p.Ser298Cys | |
| NR_147957.2:n.853A>T | ||
| NM_001352301.2:c.805A>T | NP_001339230.1:p.Ser269Cys | |
| NM_001352302.2:c.607A>T | NP_001339231.1:p.Ser203Cys | |
| NM_001352303.2:c.799A>T | NP_001339232.1:p.Ser267Cys |