Linked Data
ClinVar Variation Id:
1759195
ClinVar RCV Id:
RCV002391601
dbSNP Id:
rs750750025
ExAC:
8:19811838 G / A
gnomAD v2:
8-19811838-G-A
gnomAD v3:
8-19954327-G-A
gnomAD v4:
8-19954327-G-A
COSMIC:
COSM2785118
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954327G>A , CM000670.2:g.19954327G>A | GRCh38 |
| NC_000008.10:g.19811838G>A , CM000670.1:g.19811838G>A | GRCh37 |
| NC_000008.9:g.19856118G>A | NCBI36 |
| NG_008855.1:g.20257G>A | |
| NG_008855.2:g.57611G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.749G>A MANE Select | ENSP00000497642.1:p.Arg250His | |
| ENST00000311322.8:c.749G>A | ENSP00000309757.6:p.Arg250His | |
| NM_000237.2:c.749G>A | NP_000228.1:p.Arg250His | |
| NM_000237.3:c.749G>A MANE Select | NP_000228.1:p.Arg250His |