Linked Data
ClinVar Variation Id:
566630
ClinVar RCV Id:
RCV000686495
dbSNP Id:
rs1567801864
gnomAD v3:
15-73367858-G-A
gnomAD v4:
15-73367858-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367858G>A , CM000677.2:g.73367858G>A | GRCh38 |
| NC_000015.9:g.73660199G>A , CM000677.1:g.73660199G>A | GRCh37 |
| NC_000015.8:g.71447252G>A | NCBI36 |
| NG_009063.1:g.6407C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.413C>T MANE Select | ENSP00000261917.3:p.Ser138Phe | |
| ENST00000261917.3:c.413C>T | ENSP00000261917.3:p.Ser138Phe | |
| NM_005477.2:c.413C>T | NP_005468.1:p.Ser138Phe | |
| NM_005477.3:c.413C>T MANE Select | NP_005468.1:p.Ser138Phe |