Linked Data
dbSNP Id:
rs777322457
ExAC:
5:145719424 A / G
gnomAD v2:
5-145719424-A-G
gnomAD v4:
5-146339861-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339861A>G , CM000667.2:g.146339861A>G | GRCh38 |
| NC_000005.9:g.145719424A>G , CM000667.1:g.145719424A>G | GRCh37 |
| NC_000005.8:g.145699617A>G | NCBI36 |
| NG_011885.1:g.5838A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.434A>G MANE Select | ENSP00000495718.1:p.His145Arg | |
| ENST00000230732.4:c.434A>G | ENSP00000230732.4:p.His145Arg | |
| NM_002700.2:c.434A>G | NP_002691.1:p.His145Arg | |
| NM_002700.3:c.434A>G MANE Select | NP_002691.1:p.His145Arg |