Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.36430551C>A , CM000679.2:g.36430551C>A | GRCh38 |
| NC_000017.9:g.31873203C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032258.4:c.1008G>T | NP_115634.3:p.Glu336Asp |
| NM_032258.5:c.1008G>T | NP_115634.3:p.Glu336Asp |
| ENST00000620210.1:c.1008G>T | ENSP00000477679.1:p.Glu336Asp |