Linked Data
ClinVar Variation Id:
135676
ClinVar RCV Id:
RCV000122746
dbSNP Id:
rs587777436
gnomAD v4:
X-48905271-G-A
PubMed:
PMID:24115232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48905271G>A , CM000685.2:g.48905271G>A | GRCh38 |
| NC_000023.10:g.48762548G>A , CM000685.1:g.48762548G>A | GRCh37 |
| NC_000023.9:g.48647492G>A | NCBI36 |
| NG_034300.1:g.11688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247138.11:c.638C>T MANE Select | ENSP00000247138.5:p.Ser213Phe | |
| ENST00000247138.10:c.638C>T | ENSP00000247138.5:p.Ser213Phe | |
| ENST00000376515.8:c.355-379C>T | ENSP00000365698.3:n.355-379C>T | |
| ENST00000376521.6:c.638C>T | ENSP00000365704.1:p.Ser213Phe | |
| ENST00000376529.8:c.427-379C>T | ENSP00000365712.3:n.427-379C>T | |
| ENST00000413561.7:c.212-12C>T | ||
| ENST00000445167.7:c.427-379C>T | ENSP00000402726.2:n.427-379C>T | |
| ENST00000446885.1:c.422C>T | ENSP00000415518.1:p.Ser141Phe | |
| ENST00000452555.7:c.722C>T | ENSP00000416002.2:p.Ser241Phe | |
| ENST00000616181.5:c.677C>T | ENSP00000478617.1:p.Ser226Phe | |
| ENST00000635285.1:c.638C>T | ENSP00000489484.1:p.Ser213Phe | |
| ENST00000635460.1:c.424+1121C>T | ||
| ENST00000635589.1:c.455C>T | ENSP00000489197.1:p.Ser152Phe | |
| ENST00000635628.1:c.*532C>T | ENSP00000489613.1:n.*532C>T | |
| NM_001032289.2:c.427-379C>T | NP_001027460.1:n.427-379C>T | |
| NM_001042498.2:c.638C>T | NP_001035963.1:p.Ser213Phe | |
| NM_001282647.1:c.427-379C>T | NP_001269576.1:n.427-379C>T | |
| NM_001282648.1:c.355-379C>T | NP_001269577.1:n.355-379C>T | |
| NM_001282649.1:c.455C>T | NP_001269578.1:p.Ser152Phe | |
| NM_001282650.1:c.677C>T | NP_001269579.1:p.Ser226Phe | |
| NM_001282651.1:c.722C>T | NP_001269580.1:p.Ser241Phe | |
| NM_005660.2:c.638C>T | NP_005651.1:p.Ser213Phe | |
| NM_005660.3:c.638C>T MANE Select | NP_005651.1:p.Ser213Phe | |
| NM_001032289.3:c.427-379C>T | NP_001027460.1:n.427-379C>T | |
| NM_001042498.3:c.638C>T | NP_001035963.1:p.Ser213Phe | |
| NM_001282647.2:c.427-379C>T | NP_001269576.1:n.427-379C>T | |
| NM_001282649.2:c.455C>T | NP_001269578.1:p.Ser152Phe | |
| NM_001282650.2:c.677C>T | NP_001269579.1:p.Ser226Phe | |
| NM_001282651.2:c.722C>T | NP_001269580.1:p.Ser241Phe | |
| NM_001282648.2:c.355-379C>T | NP_001269577.1:n.355-379C>T |