Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40098239C>A , CM000679.2:g.40098239C>A | GRCh38 |
| NC_000017.10:g.38254492C>A , CM000679.1:g.38254492C>A | GRCh37 |
| NC_000017.9:g.35508018C>A | NCBI36 |
| NG_033084.1:g.7487G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021724.5:c.32-836G>T MANE Select | NP_068370.1:n.32-836G>T |
| ENST00000246672.4:c.32-836G>T MANE Select | ENSP00000246672.3:n.32-836G>T |
| NM_021724.4:c.32-836G>T | NP_068370.1:n.32-836G>T |
| ENST00000246672.3:c.32-836G>T | ENSP00000246672.3:n.32-836G>T |