Linked Data
ClinVar Variation Id:
9533
dbSNP Id:
rs200180113
ExAC:
1:225599113 G / A
gnomAD v2:
1-225599113-G-A
gnomAD v3:
1-225411411-G-A
gnomAD v4:
1-225411411-G-A
COSMIC:
COSM1339247
PubMed:
PMID:20522425
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225411411G>A , CM000663.2:g.225411411G>A | GRCh38 |
| NC_000001.10:g.225599113G>A , CM000663.1:g.225599113G>A | GRCh37 |
| NC_000001.9:g.223665736G>A | NCBI36 |
| NG_008099.1:g.22407C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272163.9:c.1114C>T MANE Select | ENSP00000272163.4:p.Arg372Cys | |
| ENST00000651341.1:c.1114C>T | ENSP00000499114.1:p.Arg372Cys | |
| ENST00000272163.8:c.1114C>T | ENSP00000272163.4:p.Arg372Cys | |
| ENST00000338179.6:c.1114C>T | ENSP00000339883.2:p.Arg372Cys | |
| ENST00000424022.2:n.7C>T | ||
| NM_002296.3:c.1114C>T | NP_002287.2:p.Arg372Cys | |
| NM_194442.2:c.1114C>T | NP_919424.1:p.Arg372Cys | |
| XM_005273125.2:c.1114C>T | XP_005273182.1:p.Arg372Cys | |
| XM_011544185.1:c.1114C>T | XP_011542487.1:p.Arg372Cys | |
| XM_011544186.1:c.1114C>T | XP_011542488.1:p.Arg372Cys | |
| XM_011544187.1:c.1085-995C>T | XP_011542489.1:n.1085-995C>T | |
| XM_005273125.3:c.1114C>T | XP_005273182.1:p.Arg372Cys | |
| XM_011544185.3:c.1114C>T | XP_011542487.1:p.Arg372Cys | |
| XR_001737168.2:n.1212-995C>T | ||
| NM_002296.4:c.1114C>T MANE Select | NP_002287.2:p.Arg372Cys | |
| NM_194442.3:c.1114C>T | NP_919424.1:p.Arg372Cys |