Linked Data
ClinVar Variation Id:
212302
dbSNP Id:
rs797046008
gnomAD v2:
4-56230356-C-T
gnomAD v3:
4-55364189-C-T
gnomAD v4:
4-55364189-C-T
COSMIC:
COSM285355
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55364189C>T , CM000666.2:g.55364189C>T | GRCh38 |
| NC_000004.11:g.56230356C>T , CM000666.1:g.56230356C>T | GRCh37 |
| NC_000004.10:g.55925113C>T | NCBI36 |
| NG_028230.1:g.22969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.480C>T MANE Select | ENSP00000264228.4:p.Val160= | |
| ENST00000677177.2:c.327C>T | ||
| ENST00000677217.1:n.352C>T | ||
| ENST00000678717.1:n.377C>T | ||
| ENST00000679351.1:c.*86C>T | ENSP00000505676.1:n.*86C>T | |
| ENST00000679707.1:c.480C>T | ENSP00000505713.1:p.Val160= | |
| ENST00000679836.1:c.480C>T | ENSP00000506601.1:p.Val160= | |
| ENST00000680700.1:c.480C>T | ENSP00000504926.1:p.Val160= | |
| ENST00000264228.8:c.480C>T | ENSP00000264228.4:p.Val160= | |
| ENST00000505210.1:c.289+4701C>T | ENSP00000424714.1:n.289+4701C>T | |
| ENST00000514398.1:n.489C>T | ||
| NM_024592.4:c.480C>T | NP_078868.1:p.Val160= | |
| XM_005265766.2:c.480C>T | XP_005265823.1:p.Val160= | |
| XM_005265767.2:c.364+4701C>T | XP_005265824.1:n.364+4701C>T | |
| XM_005265766.4:c.480C>T | XP_005265823.1:p.Val160= | |
| XM_005265767.3:c.364+4701C>T | XP_005265824.1:n.364+4701C>T | |
| XM_017008601.1:c.345C>T | XP_016864090.1:p.Val115= | |
| NM_024592.5:c.480C>T MANE Select | NP_078868.1:p.Val160= |