Linked Data
ClinVar Variation Id:
1472318
ClinVar RCV Id:
RCV001969248
dbSNP Id:
rs1439875662
gnomAD v2:
10-48388785-C-T
gnomAD v3:
10-47350577-G-A
gnomAD v4:
10-47350577-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350577G>A , CM000672.2:g.47350577G>A | GRCh38 |
| NC_000010.10:g.48388785C>T , CM000672.1:g.48388785C>T | GRCh37 |
| NC_000010.9:g.48008791C>T | NCBI36 |
| NG_029718.1:g.7207G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.2093G>A MANE Select | ENSP00000463151.1:p.Arg698His | |
| ENST00000584701.1:c.2093G>A | ENSP00000463151.1:p.Arg698His | |
| NM_002900.2:c.2093G>A | NP_002891.1:p.Arg698His | |
| NM_002900.3:c.2093G>A MANE Select | NP_002891.1:p.Arg698His |