Linked Data
ClinVar Variation Id:
1686338
ClinVar RCV Id:
RCV002246851
dbSNP Id:
rs149019598
ExAC:
16:2811566 C / T
gnomAD v2:
16-2811566-C-T
gnomAD v3:
16-2761565-C-T
gnomAD v4:
16-2761565-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2761565C>T , CM000678.2:g.2761565C>T | GRCh38 |
| NC_000016.9:g.2811566C>T , CM000678.1:g.2811566C>T | GRCh37 |
| NC_000016.8:g.2751567C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000575870.6:c.954C>T | ENSP00000515703.1:n.954C>T | |
| ENST00000576924.6:c.1037C>T | ENSP00000461181.2:p.Ser346Phe | |
| ENST00000704117.1:n.1562C>T | ||
| ENST00000301740.13:c.1037C>T MANE Select | ENSP00000301740.8:p.Ser346Phe | |
| ENST00000301740.12:c.1037C>T | ENSP00000301740.8:p.Ser346Phe | |
| ENST00000571378.5:c.749C>T | ENSP00000458647.1:p.Ser250Phe | |
| ENST00000572278.1:n.466C>T | ||
| ENST00000572952.1:n.472C>T | ||
| ENST00000573498.5:n.752C>T | ||
| ENST00000575009.5:c.749C>T | ENSP00000458870.1:p.Ser250Phe | |
| ENST00000576924.5:c.1037C>T | ENSP00000461181.1:p.Ser346Phe | |
| ENST00000630499.2:c.749C>T | ENSP00000487247.1:p.Ser250Phe | |
| NM_016333.3:c.1037C>T | NP_057417.3:p.Ser346Phe | |
| XM_005255226.1:c.1037C>T | XP_005255283.1:p.Ser346Phe | |
| XM_005255227.3:c.1037C>T | XP_005255284.1:p.Ser346Phe | |
| XM_011522443.1:c.598C>T | XP_011520745.1:p.Leu200= | |
| XR_243270.1:n.1564C>T | ||
| XR_932814.1:n.1564C>T | ||
| XR_932815.1:n.1572C>T | ||
| XR_932816.1:n.1266C>T | ||
| XR_932817.1:n.1564C>T | ||
| XR_932818.1:n.1564C>T | ||
| XR_932819.1:n.1561C>T | ||
| XR_932821.1:n.1564C>T | ||
| XM_005255226.2:c.1037C>T | XP_005255283.1:p.Ser346Phe | |
| XR_001751880.2:n.3012C>T | ||
| XR_001751881.2:n.990C>T | ||
| XR_001751882.2:n.929C>T | ||
| XR_001751883.2:n.987C>T | ||
| XR_001751884.2:n.3012C>T | ||
| XR_001751885.2:n.3012C>T | ||
| XR_001751886.1:n.425C>T | ||
| XR_002957795.1:n.3012C>T | ||
| XR_002957796.1:n.3012C>T | ||
| XR_002957797.1:n.3566C>T | ||
| XR_243270.2:n.3012C>T | ||
| XR_932814.2:n.3012C>T | ||
| XR_932815.2:n.3020C>T | ||
| XR_932816.2:n.1565C>T | ||
| XR_932817.2:n.3012C>T | ||
| XR_932819.2:n.3009C>T | ||
| NM_016333.4:c.1037C>T MANE Select | NP_057417.3:p.Ser346Phe |