Linked Data
ClinVar Variation Id:
1791
ClinVar RCV Id:
RCV000001864
dbSNP Id:
rs104894146
PubMed:
PMID:11836339
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102837084A>C , CM000672.2:g.102837084A>C | GRCh38 |
| NC_000010.10:g.104596841A>C , CM000672.1:g.104596841A>C | GRCh37 |
| NC_000010.9:g.104586831A>C | NCBI36 |
| NG_007955.1:g.5450T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.278T>G MANE Select | ENSP00000358903.3:p.Phe93Cys | |
| ENST00000638190.1:c.278T>G | ENSP00000492539.1:p.Phe93Cys | |
| ENST00000638272.1:c.278T>G | ENSP00000491508.1:p.Phe93Cys | |
| ENST00000638971.1:c.278T>G | ENSP00000492313.1:p.Phe93Cys | |
| ENST00000639393.1:c.278T>G | ENSP00000492651.1:p.Phe93Cys | |
| ENST00000369887.3:c.278T>G | ENSP00000358903.3:p.Phe93Cys | |
| ENST00000489268.1:n.331T>G | ||
| NM_000102.3:c.278T>G | NP_000093.1:p.Phe93Cys | |
| NM_000102.4:c.278T>G MANE Select | NP_000093.1:p.Phe93Cys |