Linked Data
ClinVar Variation Id:
190253
ClinVar RCV Id:
RCV000170474
dbSNP Id:
rs372250159
ExAC:
20:2375989 C / T
gnomAD v2:
20-2375989-C-T
gnomAD v3:
20-2395343-C-T
gnomAD v4:
20-2395343-C-T
PubMed:
PMID:25253745
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2395343C>T , CM000682.2:g.2395343C>T | GRCh38 |
| NC_000020.10:g.2375989C>T , CM000682.1:g.2375989C>T | GRCh37 |
| NC_000020.9:g.2323989C>T | NCBI36 |
| NG_031917.1:g.19436C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000202625.7:c.331C>T MANE Select | ENSP00000202625.2:p.Arg111Cys | |
| ENST00000202625.6:c.331C>T | ENSP00000202625.2:p.Arg111Cys | |
| ENST00000381423.1:c.331C>T | ENSP00000370831.1:p.Arg111Cys | |
| ENST00000477505.1:n.174+718C>T | ||
| NM_001254734.1:c.331C>T | NP_001241663.1:p.Arg111Cys | |
| NM_198994.2:c.331C>T | NP_945345.2:p.Arg111Cys | |
| NM_001254734.2:c.331C>T | NP_001241663.1:p.Arg111Cys | |
| NM_198994.3:c.331C>T MANE Select | NP_945345.2:p.Arg111Cys |