Linked Data
ClinVar Variation Id:
982806
ClinVar RCV Id:
RCV001262490
dbSNP Id:
rs1468416468
gnomAD v4:
19-41422257-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422257A>G , CM000681.2:g.41422257A>G | GRCh38 |
| NC_000019.9:g.41928162A>G , CM000681.1:g.41928162A>G | GRCh37 |
| NC_000019.8:g.46620002A>G | NCBI36 |
| NG_013004.1:g.29469A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.740A>G MANE Select | ENSP00000269980.2:p.His247Arg | |
| ENST00000269980.6:c.740A>G | ENSP00000269980.2:p.His247Arg | |
| ENST00000457836.6:c.674A>G | ENSP00000416000.2:p.His225Arg | |
| ENST00000535632.5:n.369A>G | ||
| ENST00000540732.3:c.842A>G | ENSP00000443246.1:p.His281Arg | |
| ENST00000542943.5:c.653A>G | ENSP00000440345.1:p.His218Arg | |
| ENST00000545787.1:n.368A>G | ||
| ENST00000595085.5:c.740A>G | ENSP00000471150.2:p.His247Arg | |
| NM_000709.3:c.740A>G | NP_000700.1:p.His247Arg | |
| NM_001164783.1:c.740A>G | NP_001158255.1:p.His247Arg | |
| NM_000709.4:c.740A>G MANE Select | NP_000700.1:p.His247Arg | |
| NM_001164783.2:c.740A>G | NP_001158255.1:p.His247Arg |