Linked Data
ClinVar Variation Id:
46325
dbSNP Id:
rs41305898
ExAC:
5:89949605 C / T
gnomAD v2:
5-89949605-C-T
gnomAD v3:
5-90653788-C-T
gnomAD v4:
5-90653788-C-T
COSMIC:
COSM3618577
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90653788C>T , CM000667.2:g.90653788C>T | GRCh38 |
| NC_000005.9:g.89949605C>T , CM000667.1:g.89949605C>T | GRCh37 |
| NC_000005.8:g.89985361C>T | NCBI36 |
| NG_007083.1:g.99989C>T | |
| NG_007083.2:g.129445C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.4214C>T MANE Select | ENSP00000384582.2:p.Ser1405Phe | |
| ENST00000504142.2:n.2980C>T | ||
| ENST00000639676.1:n.1812C>T | ||
| ENST00000640403.1:c.1505C>T | ENSP00000492531.1:p.Ser502Phe | |
| ENST00000405460.6:c.4214C>T | ENSP00000384582.2:p.Ser1405Phe | |
| ENST00000504142.1:c.2979C>T | ||
| NM_032119.3:c.4214C>T | NP_115495.3:p.Ser1405Phe | |
| NR_003149.1:n.4310C>T | ||
| XM_011543675.1:c.4214C>T | XP_011541977.1:p.Ser1405Phe | |
| XM_011543676.1:c.4214C>T | XP_011541978.1:p.Ser1405Phe | |
| XM_011543677.1:c.1517C>T | XP_011541979.1:p.Ser506Phe | |
| XM_011543678.1:c.4214C>T | XP_011541980.1:p.Ser1405Phe | |
| XM_011543679.1:c.4214C>T | XP_011541981.1:p.Ser1405Phe | |
| NM_032119.4:c.4214C>T MANE Select | NP_115495.3:p.Ser1405Phe | |
| XM_017009963.2:c.4214C>T | XP_016865452.1:p.Ser1405Phe | |
| XM_017009964.2:c.4214C>T | XP_016865453.1:p.Ser1405Phe | |
| XM_017009965.1:c.4211C>T | XP_016865454.1:p.Ser1404Phe | |
| XM_017009966.2:c.4214C>T | XP_016865455.1:p.Ser1405Phe | |
| XM_017009967.1:c.4118C>T | XP_016865456.1:p.Ser1373Phe | |
| XM_017009968.2:c.4214C>T | XP_016865457.1:p.Ser1405Phe | |
| XM_017009969.2:c.4214C>T | XP_016865458.1:p.Ser1405Phe | |
| XM_017009970.2:c.4214C>T | XP_016865459.1:p.Ser1405Phe | |
| XM_017009971.2:c.4214C>T | XP_016865460.1:p.Ser1405Phe | |
| XM_017009974.2:c.4214C>T | XP_016865463.1:p.Ser1405Phe | |
| NR_003149.2:n.4313C>T |