Linked Data
ClinVar Variation Id:
15788
ClinVar RCV Id:
RCV000017119
dbSNP Id:
rs34936612
ExAC:
16:227077 C / G
gnomAD v2:
16-227077-C-G
gnomAD v4:
16-177078-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177078C>G , CM000678.2:g.177078C>G | GRCh38 |
| NC_000016.9:g.227077C>G , CM000678.1:g.227077C>G | GRCh37 |
| NC_000016.8:g.167077C>G | NCBI36 |
| NG_000006.1:g.37941C>G | |
| NG_059186.1:g.5428C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.245C>G MANE Select | ENSP00000322421.5:p.Ser82Cys | |
| ENST00000397797.1:c.149C>G | ENSP00000380899.1:p.Ser50Cys | |
| ENST00000472694.1:n.381C>G | ||
| ENST00000487791.1:n.214C>G | ||
| NM_000558.4:c.245C>G | NP_000549.1:p.Ser82Cys | |
| NM_000558.5:c.245C>G MANE Select | NP_000549.1:p.Ser82Cys |