Linked Data
ClinVar Variation Id:
2432660
ClinVar RCV Id:
RCV003135695
dbSNP Id:
rs779980320
ExAC:
10:124221598 C / T
gnomAD v2:
10-124221598-C-T
gnomAD v4:
10-122462082-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122462082C>T , CM000672.2:g.122462082C>T | GRCh38 |
| NC_000010.10:g.124221598C>T , CM000672.1:g.124221598C>T | GRCh37 |
| NC_000010.9:g.124211588C>T | NCBI36 |
| NG_011554.1:g.5558C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.430C>T MANE Select | ENSP00000357980.3:p.Arg144Trp | |
| ENST00000648167.1:c.154+3373C>T | ENSP00000498033.1:n.154+3373C>T | |
| ENST00000368984.7:c.430C>T | ENSP00000357980.3:p.Arg144Trp | |
| NM_002775.4:c.430C>T | NP_002766.1:p.Arg144Trp | |
| NM_002775.5:c.430C>T MANE Select | NP_002766.1:p.Arg144Trp |