Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58281000A>G , CM000679.2:g.58281000A>G | GRCh38 |
| NC_000017.10:g.56358361A>G , CM000679.1:g.56358361A>G | GRCh37 |
| NC_000017.9:g.53713360A>G | NCBI36 |
| NG_009629.1:g.4936T>C , LRG_84:g.4936T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011524821.1:c.140T>C | XP_011523123.1:p.Leu47Pro | |
| XM_011524823.1:c.140T>C | XP_011523125.1:p.Leu47Pro |