Linked Data
ClinVar Variation Id:
779241
ClinVar RCV Id:
RCV000960028
dbSNP Id:
rs41268419
ExAC:
5:50687227 C / T
gnomAD v2:
5-50687227-C-T
gnomAD v3:
5-51391393-C-T
gnomAD v4:
5-51391393-C-T
COSMIC:
COSM3697251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.51391393C>T , CM000667.2:g.51391393C>T | GRCh38 |
| NC_000005.9:g.50687227C>T , CM000667.1:g.50687227C>T | GRCh37 |
| NC_000005.8:g.50722984C>T | NCBI36 |
| NG_023040.1:g.13270C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230658.12:c.885C>T MANE Select | ENSP00000230658.7:p.Ser295= | |
| ENST00000230658.11:c.885C>T | ENSP00000230658.7:p.Ser295= | |
| ENST00000505475.3:n.1090C>T | ||
| ENST00000511384.1:c.816C>T | ENSP00000422676.1:p.Ser272= | |
| NM_002202.2:c.885C>T | NP_002193.2:p.Ser295= | |
| XM_011543380.1:c.693C>T | XP_011541682.1:p.Ser231= | |
| XM_011543380.2:c.693C>T | XP_011541682.1:p.Ser231= | |
| NM_002202.3:c.885C>T MANE Select | NP_002193.2:p.Ser295= |