Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21197100G>A , CM000674.2:g.21197100G>A | GRCh38 |
| NC_000012.11:g.21350034G>A , CM000674.1:g.21350034G>A | GRCh37 |
| NC_000012.10:g.21241301G>A | NCBI36 |
| NG_011745.1:g.70907G>A , LRG_1022:g.70907G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.882G>A MANE Select | ENSP00000256958.2:p.Leu294= | |
| ENST00000256958.2:c.882G>A | ENSP00000256958.2:p.Leu294= | |
| NM_006446.4:c.882G>A , LRG_1022t1:c.882G>A | NP_006437.3:p.Leu294= | |
| NM_006446.5:c.882G>A MANE Select | NP_006437.3:p.Leu294= |