Linked Data
ClinVar Variation Id:
529488
ClinVar RCV Id:
RCV000634940
dbSNP Id:
rs578023593
ExAC:
6:24533861 C / T
gnomAD v3:
6-24533633-C-T
gnomAD v4:
6-24533633-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24533633C>T , CM000668.2:g.24533633C>T | GRCh38 |
| NC_000006.11:g.24533861C>T , CM000668.1:g.24533861C>T | GRCh37 |
| NC_000006.10:g.24641840C>T | NCBI36 |
| NG_008161.1:g.43665C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1529C>T MANE Select | ENSP00000350191.3:p.Ser510Phe | |
| ENST00000479394.2:n.644C>T | ||
| ENST00000672352.1:c.1148C>T | ENSP00000500876.1:p.Ser383Phe | |
| ENST00000672652.1:c.1492C>T | ||
| ENST00000348925.2:c.1568C>T | ENSP00000314649.3:p.Ser523Phe | |
| ENST00000357578.7:c.1529C>T | ENSP00000350191.3:p.Ser510Phe | |
| ENST00000479394.1:n.644C>T | ||
| ENST00000491546.5:c.1445C>T | ENSP00000417687.1:p.Ser482Phe | |
| ENST00000492697.1:n.295C>T | ||
| NM_001080.3:c.1529C>T MANE Select | NP_001071.1:p.Ser510Phe | |
| NM_170740.1:c.1568C>T | NP_733936.1:p.Ser523Phe | |
| NM_001368954.1:c.1385C>T | NP_001355883.1:p.Ser462Phe |