Linked Data
ClinVar Variation Id:
2010297
ClinVar RCV Id:
RCV002833884
dbSNP Id:
rs1258202820
gnomAD v2:
7-83036417-C-G
gnomAD v4:
7-83407101-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83407101C>G , CM000669.2:g.83407101C>G | GRCh38 |
| NC_000007.13:g.83036417C>G , CM000669.1:g.83036417C>G | GRCh37 |
| NC_000007.12:g.82874353C>G | NCBI36 |
| NG_021242.1:g.247063G>C | |
| NG_021242.2:g.247063G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.629G>C | ENSP00000405052.1:p.Cys210Ser | |
| ENST00000642232.1:c.809G>C | ENSP00000494064.1:p.Cys270Ser | |
| ENST00000643230.2:c.809G>C MANE Select | ENSP00000496491.1:p.Cys270Ser | |
| ENST00000643441.1:n.794G>C | ||
| ENST00000307792.7:c.809G>C | ENSP00000303212.3:p.Cys270Ser | |
| ENST00000427262.5:c.629G>C | ENSP00000405052.1:p.Cys210Ser | |
| NM_001178129.1:c.629G>C | NP_001171600.1:p.Cys210Ser | |
| NM_012431.2:c.809G>C | NP_036563.1:p.Cys270Ser | |
| XM_011516715.1:c.809G>C | XP_011515017.1:p.Cys270Ser | |
| NM_012431.3:c.809G>C MANE Select | NP_036563.1:p.Cys270Ser | |
| NM_001178129.2:c.629G>C | NP_001171600.1:p.Cys210Ser |