Linked Data
ClinVar Variation Id:
16580
ClinVar RCV Id:
RCV000018048
RCV000120808
RCV000415873
RCV000467658
RCV000766208
RCV000768209
RCV001034542
RCV001262417
RCV001391196
RCV001787804
RCV002257360
RCV003924841
dbSNP Id:
rs121913049
ExAC:
16:14041848 C / T
gnomAD v2:
16-14041848-C-T
gnomAD v3:
16-13947991-C-T
gnomAD v4:
16-13947991-C-T
COSMIC:
COSM967199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947991C>T , CM000678.2:g.13947991C>T | GRCh38 |
| NC_000016.9:g.14041848C>T , CM000678.1:g.14041848C>T | GRCh37 |
| NC_000016.8:g.13949349C>T | NCBI36 |
| NG_011442.1:g.32835C>T , LRG_463:g.32835C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682617.1:c.2533C>T | ENSP00000507912.1:p.Arg845Trp | |
| ENST00000683962.1:c.*2089C>T | ENSP00000506854.1:n.*2089C>T | |
| ENST00000311895.8:c.2395C>T MANE Select | ENSP00000310520.7:p.Arg799Trp | |
| ENST00000311895.7:c.2395C>T | ENSP00000310520.7:p.Arg799Trp | |
| ENST00000389138.7:n.1672C>T | ||
| ENST00000462862.1:c.708C>T | ENSP00000461322.1:n.708C>T | |
| NM_005236.2:c.2395C>T , LRG_463t1:c.2395C>T | NP_005227.1:p.Arg799Trp | |
| XM_011522424.1:c.2533C>T | XP_011520726.1:p.Arg845Trp | |
| XM_011522425.1:c.1852C>T | XP_011520727.1:p.Arg618Trp | |
| XM_011522426.1:c.1606C>T | XP_011520728.1:p.Arg536Trp | |
| XM_011522427.1:c.1045C>T | XP_011520729.1:p.Arg349Trp | |
| XR_932805.1:n.2554C>T | ||
| XM_011522424.3:c.2533C>T | XP_011520726.1:p.Arg845Trp | |
| XM_017023043.2:c.1606C>T | XP_016878532.1:p.Arg536Trp | |
| NM_005236.3:c.2395C>T MANE Select | NP_005227.1:p.Arg799Trp |