Linked Data
ClinVar Variation Id:
464075
ClinVar RCV Id:
RCV000542880
dbSNP Id:
rs749463179
ExAC:
16:28906274 G / A
gnomAD v2:
16-28906274-G-A
gnomAD v3:
16-28894953-G-A
gnomAD v4:
16-28894953-G-A
COSMIC:
COSM293805
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28894953G>A , CM000678.2:g.28894953G>A | GRCh38 |
| NC_000016.9:g.28906274G>A , CM000678.1:g.28906274G>A | GRCh37 |
| NC_000016.8:g.28813775G>A | NCBI36 |
| NG_023327.1:g.21466G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395503.9:c.1419G>A MANE Select | ENSP00000378879.5:p.Ser473= | |
| ENST00000357084.7:c.1419G>A | ENSP00000349595.3:p.Ser473= | |
| ENST00000395503.8:c.1419G>A | ENSP00000378879.4:p.Ser473= | |
| ENST00000536376.5:c.1044G>A | ENSP00000443101.1:p.Ser348= | |
| ENST00000564732.1:c.448G>A | ||
| NM_001286075.1:c.1044G>A | NP_001273004.1:p.Ser348= | |
| NM_004320.4:c.1419G>A | NP_004311.1:p.Ser473= | |
| NM_173201.3:c.1419G>A | NP_775293.1:p.Ser473= | |
| NM_004320.6:c.1419G>A MANE Select | NP_004311.1:p.Ser473= | |
| NM_173201.4:c.1419G>A | NP_775293.1:p.Ser473= | |
| NM_001286075.2:c.1044G>A | NP_001273004.1:p.Ser348= | |
| NM_173201.5:c.1419G>A | NP_775293.1:p.Ser473= |