Linked Data
ClinVar Variation Id:
1014784
ClinVar RCV Id:
RCV001313567
dbSNP Id:
rs782341147
ExAC:
10:48389148 C / T
gnomAD v2:
10-48389148-C-T
gnomAD v4:
10-47350214-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350214G>A , CM000672.2:g.47350214G>A | GRCh38 |
| NC_000010.10:g.48389148C>T , CM000672.1:g.48389148C>T | GRCh37 |
| NC_000010.9:g.48009154C>T | NCBI36 |
| NG_029718.1:g.6844G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1730G>A MANE Select | ENSP00000463151.1:p.Arg577His | |
| ENST00000584701.1:c.1730G>A | ENSP00000463151.1:p.Arg577His | |
| NM_002900.2:c.1730G>A | NP_002891.1:p.Arg577His | |
| NM_002900.3:c.1730G>A MANE Select | NP_002891.1:p.Arg577His |