Linked Data
ClinVar Variation Id:
471692
dbSNP Id:
rs45556841
ExAC:
5:56177843 C / G
gnomAD v2:
5-56177843-C-G
gnomAD v3:
5-56882016-C-G
gnomAD v4:
5-56882016-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56882016C>G , CM000667.2:g.56882016C>G | GRCh38 |
| NC_000005.9:g.56177843C>G , CM000667.1:g.56177843C>G | GRCh37 |
| NC_000005.8:g.56213600C>G | NCBI36 |
| NG_031884.1:g.71944C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.2816C>G MANE Select | ENSP00000382423.3:p.Ser939Cys | |
| ENST00000399503.3:c.2816C>G | ENSP00000382423.3:p.Ser939Cys | |
| NM_005921.1:c.2816C>G | NP_005912.1:p.Ser939Cys | |
| XM_005248519.3:c.2438C>G | XP_005248576.2:p.Ser813Cys | |
| XM_011543406.1:c.2561C>G | XP_011541708.1:p.Ser854Cys | |
| XM_011543407.1:c.2537C>G | XP_011541709.1:p.Ser846Cys | |
| XM_011543408.1:c.2816C>G | XP_011541710.1:p.Ser939Cys | |
| XM_017009484.1:c.2405C>G | XP_016864973.1:p.Ser802Cys | |
| XM_017009485.1:c.2327C>G | XP_016864974.1:p.Ser776Cys | |
| XR_001742068.2:n.2847C>G | ||
| NM_005921.2:c.2816C>G MANE Select | NP_005912.1:p.Ser939Cys |