Linked Data
ClinVar Variation Id:
459922
dbSNP Id:
rs1405344068
gnomAD v2:
7-65553815-C-T
gnomAD v3:
7-66088828-C-T
gnomAD v4:
7-66088828-C-T
COSMIC:
COSM1313232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66088828C>T , CM000669.2:g.66088828C>T | GRCh38 |
| NC_000007.13:g.65553815C>T , CM000669.1:g.65553815C>T | GRCh37 |
| NC_000007.12:g.65191250C>T | NCBI36 |
| NG_009288.1:g.18040C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.740C>T MANE Select | ENSP00000307188.9:p.Ser247Leu | |
| ENST00000362000.10:c.545C>T | ENSP00000354710.6:p.Ser182Leu | |
| ENST00000380839.9:c.662C>T | ENSP00000370219.4:p.Ser221Leu | |
| ENST00000395331.4:c.740C>T | ENSP00000378740.3:p.Ser247Leu | |
| ENST00000395332.8:c.740C>T | ENSP00000378741.3:p.Ser247Leu | |
| ENST00000671817.1:c.662C>T | ENSP00000500462.1:p.Ser221Leu | |
| ENST00000672498.1:c.*39C>T | ENSP00000500227.1:n.*39C>T | |
| ENST00000672586.1:n.1499C>T | ||
| ENST00000672676.1:n.1764C>T | ||
| ENST00000673149.1:n.552C>T | ||
| ENST00000673350.1:n.2857C>T | ||
| ENST00000673518.1:c.662C>T | ENSP00000499889.1:p.Ser221Leu | |
| ENST00000304874.13:c.740C>T | ENSP00000307188.9:p.Ser247Leu | |
| ENST00000362000.9:c.545C>T | ENSP00000354710.5:p.Ser182Leu | |
| ENST00000380839.8:c.662C>T | ENSP00000370219.4:p.Ser221Leu | |
| ENST00000395331.3:c.740C>T | ENSP00000378740.3:p.Ser247Leu | |
| ENST00000395332.7:c.740C>T | ENSP00000378741.3:p.Ser247Leu | |
| ENST00000450043.2:c.53C>T | ENSP00000396527.2:p.Ser18Leu | |
| ENST00000493708.5:n.121C>T | ||
| NM_000048.3:c.740C>T | NP_000039.2:p.Ser247Leu | |
| NM_001024943.1:c.740C>T | NP_001020114.1:p.Ser247Leu | |
| NM_001024944.1:c.740C>T | NP_001020115.1:p.Ser247Leu | |
| NM_001024946.1:c.662C>T | NP_001020117.1:p.Ser221Leu | |
| NM_000048.4:c.740C>T MANE Select | NP_000039.2:p.Ser247Leu | |
| NM_001024943.2:c.740C>T | NP_001020114.1:p.Ser247Leu | |
| NM_001024944.2:c.740C>T | NP_001020115.1:p.Ser247Leu | |
| NM_001024946.2:c.662C>T | NP_001020117.1:p.Ser221Leu |