Linked Data
ClinVar Variation Id:
2950797
ClinVar RCV Id:
RCV003810107
dbSNP Id:
rs746273815
gnomAD v4:
16-13947783-C-T
COSMIC:
COSM434661
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947783C>T , CM000678.2:g.13947783C>T | GRCh38 |
| NC_000016.9:g.14041640C>T , CM000678.1:g.14041640C>T | GRCh37 |
| NC_000016.8:g.13949141C>T | NCBI36 |
| NG_011442.1:g.32627C>T , LRG_463:g.32627C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2325C>T | ENSP00000507912.1:p.Ile775= | |
| ENST00000683962.1:c.*1881C>T | ENSP00000506854.1:n.*1881C>T | |
| ENST00000311895.8:c.2187C>T MANE Select | ENSP00000310520.7:p.Ile729= | |
| ENST00000311895.7:c.2187C>T | ENSP00000310520.7:p.Ile729= | |
| ENST00000389138.7:n.1464C>T | ||
| ENST00000462862.1:c.500C>T | ENSP00000461322.1:n.500C>T | |
| NM_005236.2:c.2187C>T , LRG_463t1:c.2187C>T | NP_005227.1:p.Ile729= | |
| XM_011522424.1:c.2325C>T | XP_011520726.1:p.Ile775= | |
| XM_011522425.1:c.1644C>T | XP_011520727.1:p.Ile548= | |
| XM_011522426.1:c.1398C>T | XP_011520728.1:p.Ile466= | |
| XM_011522427.1:c.837C>T | XP_011520729.1:p.Ile279= | |
| XR_932805.1:n.2346C>T | ||
| XM_011522424.3:c.2325C>T | XP_011520726.1:p.Ile775= | |
| XM_017023043.2:c.1398C>T | XP_016878532.1:p.Ile466= | |
| NM_005236.3:c.2187C>T MANE Select | NP_005227.1:p.Ile729= |