Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58280997G= , CM000679.2:g.58280997G= | GRCh38 |
| NC_000017.10:g.56358358G= , CM000679.1:g.56358358G= | GRCh37 |
| NC_000017.9:g.53713357G= | NCBI36 |
| NG_009629.1:g.4939C= , LRG_84:g.4939C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011524821.1:c.143C= | XP_011523123.1:p.Pro48= | |
| XM_011524823.1:c.143C= | XP_011523125.1:p.Pro48= |