Linked Data
dbSNP Id:
rs746611474
ExAC:
5:56178094 C / T
gnomAD v2:
5-56178094-C-T
gnomAD v3:
5-56882267-C-T
gnomAD v4:
5-56882267-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56882267C>T , CM000667.2:g.56882267C>T | GRCh38 |
| NC_000005.9:g.56178094C>T , CM000667.1:g.56178094C>T | GRCh37 |
| NC_000005.8:g.56213851C>T | NCBI36 |
| NG_031884.1:g.72195C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.3067C>T MANE Select | ENSP00000382423.3:p.Arg1023Cys | |
| ENST00000399503.3:c.3067C>T | ENSP00000382423.3:p.Arg1023Cys | |
| NM_005921.1:c.3067C>T | NP_005912.1:p.Arg1023Cys | |
| XM_005248519.3:c.2689C>T | XP_005248576.2:p.Arg897Cys | |
| XM_011543406.1:c.2812C>T | XP_011541708.1:p.Arg938Cys | |
| XM_011543407.1:c.2788C>T | XP_011541709.1:p.Arg930Cys | |
| XM_011543408.1:c.3067C>T | XP_011541710.1:p.Arg1023Cys | |
| XM_017009484.1:c.2656C>T | XP_016864973.1:p.Arg886Cys | |
| XM_017009485.1:c.2578C>T | XP_016864974.1:p.Arg860Cys | |
| XR_001742068.2:n.3098C>T | ||
| NM_005921.2:c.3067C>T MANE Select | NP_005912.1:p.Arg1023Cys |