Linked Data
ClinVar Variation Id:
15595
ClinVar RCV Id:
RCV000016862
dbSNP Id:
rs33932908
gnomAD v4:
11-5225704-C-A
PubMed:
PMID:11939514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225704C>A , CM000673.2:g.5225704C>A | GRCh38 |
| NC_000011.9:g.5246934C>A , CM000673.1:g.5246934C>A | GRCh37 |
| NC_000011.8:g.5203510C>A | NCBI36 |
| NG_000007.3:g.71912G>T | |
| NG_059281.1:g.6368G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.338G>T | ENSP00000494175.1:p.Cys113Phe | |
| ENST00000335295.4:c.338G>T MANE Select | ENSP00000333994.3:p.Cys113Phe | |
| ENST00000475226.1:n.270G>T | ||
| ENST00000633227.1:c.*154G>T | ENSP00000488004.1:n.*154G>T | |
| NM_000518.4:c.338G>T | NP_000509.1:p.Cys113Phe | |
| NM_000518.5:c.338G>T MANE Select | NP_000509.1:p.Cys113Phe |