Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6707902T>A , CM000681.2:g.6707902T>A | GRCh38 |
| NC_000019.9:g.6707913T>A , CM000681.1:g.6707913T>A | GRCh37 |
| NC_000019.8:g.6658913T>A | NCBI36 |
| NG_009557.1:g.17750A>T , LRG_27:g.17750A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1873A>T MANE Select | NP_000055.2:p.Ile625Phe |
| ENST00000245907.11:c.1873A>T MANE Select | ENSP00000245907.4:p.Ile625Phe |
| NM_000064.3:c.1873A>T | NP_000055.2:p.Ile625Phe |
| ENST00000245907.10:c.1873A>T | ENSP00000245907.4:p.Ile625Phe |
| ENST00000695651.1:n.144A>T | |
| ENST00000695652.1:c.1750A>T | ENSP00000512083.1:p.Ile584Phe |
| ENST00000695654.1:c.997A>T | ENSP00000512085.1:p.Ile333Phe |
| ENST00000695655.1:c.814A>T | ENSP00000512086.1:n.814A>T |
| ENST00000695692.1:n.1237A>T |