Linked Data
ClinVar Variation Id:
1303255
ClinVar RCV Id:
RCV001757810
dbSNP Id:
rs1287351470
gnomAD v2:
8-19811775-A-G
gnomAD v4:
8-19954264-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954264A>G , CM000670.2:g.19954264A>G | GRCh38 |
| NC_000008.10:g.19811775A>G , CM000670.1:g.19811775A>G | GRCh37 |
| NC_000008.9:g.19856055A>G | NCBI36 |
| NG_008855.1:g.20194A>G | |
| NG_008855.2:g.57548A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.686A>G MANE Select | ENSP00000497642.1:p.His229Arg | |
| ENST00000311322.8:c.686A>G | ENSP00000309757.6:p.His229Arg | |
| NM_000237.2:c.686A>G | NP_000228.1:p.His229Arg | |
| NM_000237.3:c.686A>G MANE Select | NP_000228.1:p.His229Arg |