Linked Data
ClinVar Variation Id:
1438706
ClinVar RCV Id:
RCV001934344
dbSNP Id:
rs756216768
ExAC:
12:4758300 C / T
gnomAD v2:
12-4758300-C-T
gnomAD v3:
12-4649134-C-T
gnomAD v4:
12-4649134-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4649134C>T , CM000674.2:g.4649134C>T | GRCh38 |
| NC_000012.11:g.4758300C>T , CM000674.1:g.4758300C>T | GRCh37 |
| NC_000012.10:g.4628561C>T | NCBI36 |
| NG_032124.1:g.5037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266544.10:c.8C>T MANE Select | ENSP00000266544.5:p.Ala3Val | |
| ENST00000648836.1:c.8C>T | ENSP00000497305.1:p.Ala3Val | |
| ENST00000266544.9:c.8C>T | ENSP00000266544.5:p.Ala3Val | |
| ENST00000396655.6:n.18C>T | ||
| ENST00000536588.1:c.205-5158C>T | ||
| ENST00000539573.5:n.40C>T | ||
| ENST00000542369.5:n.20C>T | ||
| ENST00000544679.1:n.16C>T | ||
| NM_005002.4:c.8C>T | NP_004993.1:p.Ala3Val | |
| NM_005002.5:c.8C>T MANE Select | NP_004993.1:p.Ala3Val |