Linked Data
ClinVar Variation Id:
1496341
ClinVar RCV Id:
RCV002015512
dbSNP Id:
rs1055092695
gnomAD v2:
10-69991377-C-T
gnomAD v3:
10-68231620-C-T
gnomAD v4:
10-68231620-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231620C>T , CM000672.2:g.68231620C>T | GRCh38 |
| NC_000010.10:g.69991377C>T , CM000672.1:g.69991377C>T | GRCh37 |
| NC_000010.9:g.69661383C>T | NCBI36 |
| NG_031934.1:g.5494G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.58G>A MANE Select | ENSP00000362777.3:p.Ala20Thr | |
| ENST00000373673.4:c.58G>A | ENSP00000362777.3:p.Ala20Thr | |
| NM_145178.3:c.58G>A | NP_660161.1:p.Ala20Thr | |
| NM_145178.4:c.58G>A MANE Select | NP_660161.1:p.Ala20Thr |