Linked Data
ClinVar Variation Id:
1604426
ClinVar RCV Id:
RCV002157683
dbSNP Id:
rs1013711090
gnomAD v3:
10-68231630-T-A
gnomAD v4:
10-68231630-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231630T>A , CM000672.2:g.68231630T>A | GRCh38 |
| NC_000010.10:g.69991387T>A , CM000672.1:g.69991387T>A | GRCh37 |
| NC_000010.9:g.69661393T>A | NCBI36 |
| NG_031934.1:g.5484A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.48A>T MANE Select | ENSP00000362777.3:p.Ala16= | |
| ENST00000373673.4:c.48A>T | ENSP00000362777.3:p.Ala16= | |
| NM_145178.3:c.48A>T | NP_660161.1:p.Ala16= | |
| NM_145178.4:c.48A>T MANE Select | NP_660161.1:p.Ala16= |