Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176725G>A , CM000674.2:g.21176725G>A | GRCh38 |
| NC_000012.11:g.21329659G>A , CM000674.1:g.21329659G>A | GRCh37 |
| NC_000012.10:g.21220926G>A | NCBI36 |
| NG_011745.1:g.50532G>A , LRG_1022:g.50532G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.360-51G>A MANE Select | ENSP00000256958.2:n.360-51G>A | |
| ENST00000256958.2:c.360-51G>A | ENSP00000256958.2:n.360-51G>A | |
| ENST00000543498.5:c.426-51G>A | ||
| NM_006446.4:c.360-51G>A , LRG_1022t1:c.360-51G>A | NP_006437.3:n.360-51G>A | |
| NM_006446.5:c.360-51G>A MANE Select | NP_006437.3:n.360-51G>A |