Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174636T>A , CM000674.2:g.21174636T>A | GRCh38 |
| NC_000012.11:g.21327570T>A , CM000674.1:g.21327570T>A | GRCh37 |
| NC_000012.10:g.21218837T>A | NCBI36 |
| NG_011745.1:g.48443T>A , LRG_1022:g.48443T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.286T>A MANE Select | ENSP00000256958.2:p.Leu96Ile | |
| ENST00000256958.2:c.286T>A | ENSP00000256958.2:p.Leu96Ile | |
| ENST00000543498.5:c.426-2140T>A | ||
| NM_006446.4:c.286T>A , LRG_1022t1:c.286T>A | NP_006437.3:p.Leu96Ile | |
| NM_006446.5:c.286T>A MANE Select | NP_006437.3:p.Leu96Ile |