Linked Data
dbSNP Id:
rs770175544
ExAC:
1:17727762 A / G
gnomAD v2:
1-17727762-A-G
gnomAD v3:
1-17401266-A-G
gnomAD v4:
1-17401266-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401266A>G , CM000663.2:g.17401266A>G | GRCh38 |
| NC_000001.10:g.17727762A>G , CM000663.1:g.17727762A>G | GRCh37 |
| NC_000001.9:g.17600349A>G | NCBI36 |
| NG_032943.1:g.34021A>G | |
| NG_032943.2:g.34021A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1913A>G MANE Select | ENSP00000483125.1:p.Lys638Arg | |
| NM_207421.4:c.1913A>G MANE Select | NP_997304.3:p.Lys638Arg |