Linked Data
ClinVar Variation Id:
638374
dbSNP Id:
rs138583785
ExAC:
11:67378011 C / T
gnomAD v2:
11-67378011-C-T
gnomAD v3:
11-67610540-C-T
gnomAD v4:
11-67610540-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67610540C>T , CM000673.2:g.67610540C>T | GRCh38 |
| NC_000011.9:g.67378011C>T , CM000673.1:g.67378011C>T | GRCh37 |
| NC_000011.8:g.67134587C>T | NCBI36 |
| NG_013353.1:g.8689C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.670C>T MANE Select | ENSP00000322450.6:p.Arg224Cys | |
| ENST00000647561.1:c.670C>T | ENSP00000497587.1:p.Arg224Cys | |
| ENST00000322776.10:c.670C>T | ENSP00000322450.6:p.Arg224Cys | |
| ENST00000415352.6:c.649C>T | ENSP00000395368.2:p.Arg217Cys | |
| ENST00000526169.1:n.412C>T | ||
| ENST00000526770.5:n.529C>T | ||
| ENST00000529927.5:c.643C>T | ENSP00000436766.1:p.Arg215Cys | |
| ENST00000532244.5:c.367C>T | ENSP00000435202.1:p.Arg123Cys | |
| ENST00000532303.5:c.367C>T | ENSP00000432015.1:p.Arg123Cys | |
| ENST00000533919.5:c.148C>T | ENSP00000435199.1:p.Arg50Cys | |
| NM_001166102.1:c.643C>T | NP_001159574.1:p.Arg215Cys | |
| NM_007103.3:c.670C>T | NP_009034.2:p.Arg224Cys | |
| NM_001166102.2:c.643C>T | NP_001159574.1:p.Arg215Cys | |
| NM_007103.4:c.670C>T MANE Select | NP_009034.2:p.Arg224Cys |