Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.805743G>A , CM000678.2:g.805743G>A | GRCh38 |
| NC_000016.9:g.855743G>A , CM000678.1:g.855743G>A | GRCh37 |
| NC_000016.8:g.795744G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001013638.1:c.301G>A | NP_001013660.1:p.Ala101Thr |
| ENST00000301698.1:c.301G>A | ENSP00000301698.1:p.Ala101Thr |