Linked Data
ClinVar Variation Id:
144021
ClinVar RCV Id:
RCV000133530
dbSNP Id:
rs587777643
ExAC:
8:144297158 C / G
gnomAD v2:
8-144297158-C-G
gnomAD v4:
8-143215283-C-G
PubMed:
PMID:24847059
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143215283C>G , CM000670.2:g.143215283C>G | GRCh38 |
| NC_000008.10:g.144297158C>G , CM000670.1:g.144297158C>G | GRCh37 |
| NC_000008.9:g.144368533C>G | NCBI36 |
| NG_034256.1:g.7091C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622500.2:c.320C>G MANE Select | ENSP00000480053.1:p.Ser107Cys | |
| ENST00000622500.1:c.320C>G | ENSP00000480053.1:p.Ser107Cys | |
| NM_001301772.1:c.320C>G | NP_001288701.1:p.Ser107Cys | |
| NM_178172.5:c.320C>G | NP_835466.2:p.Ser107Cys | |
| NM_178172.6:c.320C>G MANE Select | NP_835466.2:p.Ser107Cys | |
| NM_001301772.2:c.320C>G | NP_001288701.1:p.Ser107Cys |