Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21172784T>A , CM000674.2:g.21172784T>A | GRCh38 |
| NC_000012.11:g.21325718T>A , CM000674.1:g.21325718T>A | GRCh37 |
| NC_000012.10:g.21216985T>A | NCBI36 |
| NG_011745.1:g.46591T>A , LRG_1022:g.46591T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.219T>A MANE Select | NP_006437.3:p.Phe73Leu |
| ENST00000256958.3:c.219T>A MANE Select | ENSP00000256958.2:p.Phe73Leu |
| NM_006446.4:c.219T>A , LRG_1022t1:c.219T>A | NP_006437.3:p.Phe73Leu |
| ENST00000256958.2:c.219T>A | ENSP00000256958.2:p.Phe73Leu |
| ENST00000543498.5:c.426-3992T>A |