Linked Data
ClinVar Variation Id:
3090925
ClinVar RCV Id:
RCV004383328
dbSNP Id:
rs757591980
ExAC:
10:115804013 C / G
gnomAD v2:
10-115804013-C-G
gnomAD v3:
10-114044254-C-G
gnomAD v4:
10-114044254-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044254C>G , CM000672.2:g.114044254C>G | GRCh38 |
| NC_000010.10:g.115804013C>G , CM000672.1:g.115804013C>G | GRCh37 |
| NC_000010.9:g.115794003C>G | NCBI36 |
| NG_012187.1:g.5208C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.122C>G MANE Select | ENSP00000358301.2:p.Ser41Trp | |
| ENST00000369295.3:c.122C>G | ENSP00000358301.2:p.Ser41Trp | |
| NM_000684.2:c.122C>G | NP_000675.1:p.Ser41Trp | |
| NM_000684.3:c.122C>G MANE Select | NP_000675.1:p.Ser41Trp |