Linked Data
ClinVar Variation Id:
440706
ClinVar RCV Id:
RCV000508901
dbSNP Id:
rs1372204035
gnomAD v2:
1-55505650-C-G
gnomAD v4:
1-55039977-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039977C>G , CM000663.2:g.55039977C>G | GRCh38 |
| NC_000001.10:g.55505650C>G , CM000663.1:g.55505650C>G | GRCh37 |
| NC_000001.9:g.55278238C>G | NCBI36 |
| NG_009061.1:g.5431C>G , LRG_275:g.5431C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.140C>G | ENSP00000501161.2:p.Ser47Cys | |
| ENST00000710286.1:c.497C>G | ENSP00000518176.1:p.Ser166Cys | |
| ENST00000673726.1:c.140C>G | ENSP00000501004.1:p.Ser47Cys | |
| ENST00000302118.5:c.140C>G MANE Select | ENSP00000303208.5:p.Ser47Cys | |
| NM_174936.3:c.140C>G , LRG_275t1:c.140C>G | NP_777596.2:p.Ser47Cys | |
| NM_174936.4:c.140C>G MANE Select | NP_777596.2:p.Ser47Cys |