Linked Data
ClinVar Variation Id:
1014493
ClinVar RCV Id:
RCV001313234
dbSNP Id:
rs202090219
ExAC:
1:979245 C / T
gnomAD v2:
1-979245-C-T
gnomAD v3:
1-1043865-C-T
gnomAD v4:
1-1043865-C-T
COSMIC:
COSM5602764
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1043865C>T , CM000663.2:g.1043865C>T | GRCh38 |
| NC_000001.10:g.979245C>T , CM000663.1:g.979245C>T | GRCh37 |
| NC_000001.9:g.969108C>T | NCBI36 |
| NG_016346.1:g.28743C>T , LRG_198:g.28743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.1841C>T MANE Select | ENSP00000368678.2:p.Ser614Phe | |
| ENST00000651234.1:c.1526C>T | ENSP00000499046.1:p.Ser509Phe | |
| ENST00000652369.1:c.1526C>T | ENSP00000498543.1:p.Ser509Phe | |
| ENST00000379370.6:c.1841C>T | ENSP00000368678.2:p.Ser614Phe | |
| ENST00000620552.4:c.1427C>T | ENSP00000484607.1:p.Ser476Phe | |
| NM_001305275.1:c.1841C>T | NP_001292204.1:p.Ser614Phe | |
| NM_198576.3:c.1841C>T | NP_940978.2:p.Ser614Phe | |
| XM_005244749.2:c.1841C>T | XP_005244806.1:p.Ser614Phe | |
| XM_006710635.2:c.1841C>T | XP_006710698.1:p.Ser614Phe | |
| XM_011541429.1:c.1841C>T | XP_011539731.1:p.Ser614Phe | |
| XM_011541430.1:c.968C>T | XP_011539732.1:p.Ser323Phe | |
| XM_011541431.1:c.107C>T | XP_011539733.1:p.Ser36Phe | |
| XR_946650.1:n.1908C>T | ||
| NM_001364727.1:c.1526C>T | NP_001351656.1:p.Ser509Phe | |
| XM_005244749.3:c.1841C>T | XP_005244806.1:p.Ser614Phe | |
| XM_011541429.2:c.1841C>T | XP_011539731.1:p.Ser614Phe | |
| XR_946650.2:n.1912C>T | ||
| NM_001305275.2:c.1841C>T | NP_001292204.1:p.Ser614Phe | |
| NM_198576.4:c.1841C>T MANE Select | NP_940978.2:p.Ser614Phe | |
| NM_001364727.2:c.1526C>T | NP_001351656.1:p.Ser509Phe |