Linked Data
ClinVar Variation Id:
449684
ClinVar RCV Id:
RCV000522184
dbSNP Id:
rs1555197885
gnomAD v4:
11-112226487-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112226487C>T , CM000673.2:g.112226487C>T | GRCh38 |
| NC_000011.9:g.112097210C>T , CM000673.1:g.112097210C>T | GRCh37 |
| NC_000011.8:g.111602420C>T | NCBI36 |
| NG_008743.1:g.5123C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.44C>T MANE Select | ENSP00000280362.3:p.Ser15Phe | |
| ENST00000280362.7:c.44C>T | ENSP00000280362.3:p.Ser15Phe | |
| ENST00000525645.1:n.119C>T | ||
| ENST00000525803.1:c.44C>T | ENSP00000431750.1:p.Ser15Phe | |
| ENST00000528679.5:c.44C>T | ENSP00000435895.1:p.Ser15Phe | |
| ENST00000531673.5:c.44C>T | ENSP00000433469.1:p.Ser15Phe | |
| NM_000317.2:c.44C>T | NP_000308.1:p.Ser15Phe | |
| NM_000317.3:c.44C>T MANE Select | NP_000308.1:p.Ser15Phe |