Linked Data
ClinVar Variation Id:
5872
dbSNP Id:
rs121912628
ExAC:
5:131953874 C / T
gnomAD:
5:131953874 C / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132618182C>T , CM000667.2:g.132618182C>T | GRCh38 |
| NC_000005.9:g.131953874C>T , CM000667.1:g.131953874C>T | GRCh37 |
| NC_000005.8:g.131981773C>T | NCBI36 |
| NG_021151.1:g.66259C>T | |
| NG_021151.2:g.66206C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.3277C>T MANE Select | ENSP00000368100.4:p.Arg1093Ter | |
| ENST00000638452.2:c.2980C>T | ENSP00000492349.2:p.Arg994Ter | |
| ENST00000638504.1:n.2885C>T | ||
| ENST00000638568.2:c.2980C>T | ENSP00000491158.2:p.Arg994Ter | |
| ENST00000639899.1:n.3796C>T | ||
| ENST00000640655.2:c.2980C>T | ENSP00000491596.2:p.Arg994Ter | |
| ENST00000651249.1:n.113C>T | ||
| ENST00000378823.7:c.3277C>T | ENSP00000368100.4:p.Arg1093Ter | |
| ENST00000533482.5:c.*2903C>T | ENSP00000431225.1:p.= | |
| NM_005732.3:c.3277C>T | NP_005723.2:p.Arg1093Ter | |
| NM_005732.4:c.3277C>T MANE Select | NP_005723.2:p.Arg1093Ter |