Linked Data
dbSNP Id:
rs186873557
gnomAD v2:
17-56358352-G-C
gnomAD v3:
17-58280991-G-C
gnomAD v4:
17-58280991-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58280991G>C , CM000679.2:g.58280991G>C | GRCh38 |
| NC_000017.10:g.56358352G>C , CM000679.1:g.56358352G>C | GRCh37 |
| NC_000017.9:g.53713351G>C | NCBI36 |
| NG_009629.1:g.4945C>G , LRG_84:g.4945C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011524821.1:c.149C>G | XP_011523123.1:p.Pro50Arg | |
| XM_011524823.1:c.149C>G | XP_011523125.1:p.Pro50Arg |