Linked Data
dbSNP Id:
rs371287681
ExAC:
5:56177587 C / T
gnomAD v2:
5-56177587-C-T
gnomAD v3:
5-56881760-C-T
gnomAD v4:
5-56881760-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56881760C>T , CM000667.2:g.56881760C>T | GRCh38 |
| NC_000005.9:g.56177587C>T , CM000667.1:g.56177587C>T | GRCh37 |
| NC_000005.8:g.56213344C>T | NCBI36 |
| NG_031884.1:g.71688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.2560C>T MANE Select | ENSP00000382423.3:p.Arg854Cys | |
| ENST00000399503.3:c.2560C>T | ENSP00000382423.3:p.Arg854Cys | |
| NM_005921.1:c.2560C>T | NP_005912.1:p.Arg854Cys | |
| XM_005248519.3:c.2182C>T | XP_005248576.2:p.Arg728Cys | |
| XM_011543406.1:c.2305C>T | XP_011541708.1:p.Arg769Cys | |
| XM_011543407.1:c.2281C>T | XP_011541709.1:p.Arg761Cys | |
| XM_011543408.1:c.2560C>T | XP_011541710.1:p.Arg854Cys | |
| XM_017009484.1:c.2149C>T | XP_016864973.1:p.Arg717Cys | |
| XM_017009485.1:c.2071C>T | XP_016864974.1:p.Arg691Cys | |
| XR_001742068.2:n.2591C>T | ||
| NM_005921.2:c.2560C>T MANE Select | NP_005912.1:p.Arg854Cys |