Linked Data
ClinVar Variation Id:
14452
ClinVar RCV Id:
RCV000015537
dbSNP Id:
rs121912502
ExAC:
15:58840586 C / T
gnomAD v2:
15-58840586-C-T
gnomAD v3:
15-58548387-C-T
gnomAD v4:
15-58548387-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58548387C>T , CM000677.2:g.58548387C>T | GRCh38 |
| NC_000015.9:g.58840586C>T , CM000677.1:g.58840586C>T | GRCh37 |
| NC_000015.8:g.56627878C>T | NCBI36 |
| NG_011465.1:g.121412C>T | |
| NG_011465.2:g.121412C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299022.10:c.866C>T MANE Select | ENSP00000299022.5:p.Ser289Phe | |
| ENST00000299022.9:c.866C>T | ENSP00000299022.5:p.Ser289Phe | |
| ENST00000356113.10:c.866C>T | ENSP00000348425.6:p.Ser289Phe | |
| ENST00000414170.7:c.866C>T | ENSP00000395569.3:p.Ser289Phe | |
| ENST00000433326.2:c.683C>T | ENSP00000395002.2:p.Ser228Phe | |
| ENST00000559845.5:n.723C>T | ||
| ENST00000560664.1:n.630C>T | ||
| NM_000236.2:c.866C>T | NP_000227.2:p.Ser289Phe | |
| XM_005254372.1:c.866C>T | XP_005254429.1:p.Ser289Phe | |
| XM_005254374.3:c.803C>T | XP_005254431.1:p.Ser268Phe | |
| XM_006720502.2:c.725C>T | XP_006720565.1:p.Ser242Phe | |
| XM_011521551.1:c.866C>T | XP_011519853.1:p.Ser289Phe | |
| XM_005254374.4:c.902C>T | XP_005254431.2:p.Ser301Phe | |
| XM_006720502.4:c.725C>T | XP_006720565.1:p.Ser242Phe | |
| XM_017022176.1:c.902C>T | XP_016877665.1:p.Ser301Phe | |
| XM_024449916.1:c.866C>T | XP_024305684.1:p.Ser289Phe | |
| XM_024449917.1:c.866C>T | XP_024305685.1:p.Ser289Phe | |
| NM_000236.3:c.866C>T MANE Select | NP_000227.2:p.Ser289Phe |