Linked Data
ClinVar Variation Id:
1630026
ClinVar RCV Id:
RCV002118757
dbSNP Id:
rs782015590
ExAC:
10:48389168 C / T
gnomAD v2:
10-48389168-C-T
gnomAD v3:
10-47350194-G-A
gnomAD v4:
10-47350194-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350194G>A , CM000672.2:g.47350194G>A | GRCh38 |
| NC_000010.10:g.48389168C>T , CM000672.1:g.48389168C>T | GRCh37 |
| NC_000010.9:g.48009174C>T | NCBI36 |
| NG_029718.1:g.6824G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1710G>A MANE Select | ENSP00000463151.1:p.Ala570= | |
| ENST00000584701.1:c.1710G>A | ENSP00000463151.1:p.Ala570= | |
| NM_002900.2:c.1710G>A | NP_002891.1:p.Ala570= | |
| NM_002900.3:c.1710G>A MANE Select | NP_002891.1:p.Ala570= |