Linked Data
ClinVar Variation Id:
518356
dbSNP Id:
rs752140135
ExAC:
4:56831855 C / T
gnomAD v2:
4-56831855-C-T
gnomAD v3:
4-55965689-C-T
gnomAD v4:
4-55965689-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55965689C>T , CM000666.2:g.55965689C>T | GRCh38 |
| NC_000004.11:g.56831855C>T , CM000666.1:g.56831855C>T | GRCh37 |
| NC_000004.10:g.56526612C>T | NCBI36 |
| NG_032806.1:g.21882C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257287.5:c.874C>T MANE Select | ENSP00000257287.3:p.Arg292Ter | |
| ENST00000257287.4:c.874C>T | ENSP00000257287.3:p.Arg292Ter | |
| ENST00000506202.1:n.824C>T | ||
| ENST00000515081.1:n.508C>T | ||
| NM_025009.4:c.874C>T | NP_079285.2:p.Arg292Ter | |
| XM_006714055.2:c.874C>T | XP_006714118.1:p.Arg292Ter | |
| XR_941063.1:n.472-686G>A | ||
| XR_941064.1:n.471+5084G>A | ||
| XM_005265788.4:c.-194C>T | XP_005265845.1:n.-194C>T | |
| XM_006714055.3:c.874C>T | XP_006714118.1:p.Arg292Ter | |
| NM_025009.5:c.874C>T MANE Select | NP_079285.2:p.Arg292Ter |