Linked Data
ClinVar Variation Id:
7626
ClinVar RCV Id:
RCV000008065
dbSNP Id:
rs121918353
PubMed:
PMID:12022040
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10656452C>T , CM000682.2:g.10656452C>T | GRCh38 |
| NC_000020.10:g.10637100C>T , CM000682.1:g.10637100C>T | GRCh37 |
| NC_000020.9:g.10585100C>T | NCBI36 |
| NG_007496.1:g.22595G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.701G>A MANE Select | ENSP00000254958.4:p.Cys234Tyr | |
| ENST00000254958.9:c.701G>A | ENSP00000254958.4:p.Cys234Tyr | |
| ENST00000423891.6:n.567G>A | ||
| NM_000214.2:c.701G>A | NP_000205.1:p.Cys234Tyr | |
| NM_000214.3:c.701G>A MANE Select | NP_000205.1:p.Cys234Tyr |