Linked Data
ClinVar Variation Id:
1523546
ClinVar RCV Id:
RCV002038961
dbSNP Id:
rs374993918
ExAC:
5:145719499 A / G
gnomAD v2:
5-145719499-A-G
gnomAD v4:
5-146339936-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339936A>G , CM000667.2:g.146339936A>G | GRCh38 |
| NC_000005.9:g.145719499A>G , CM000667.1:g.145719499A>G | GRCh37 |
| NC_000005.8:g.145699692A>G | NCBI36 |
| NG_011885.1:g.5913A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646991.2:c.509A>G MANE Select | ENSP00000495718.1:p.His170Arg | |
| ENST00000230732.4:c.509A>G | ENSP00000230732.4:p.His170Arg | |
| NM_002700.2:c.509A>G | NP_002691.1:p.His170Arg | |
| NM_002700.3:c.509A>G MANE Select | NP_002691.1:p.His170Arg |