Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50138732T>A , CM000676.2:g.50138732T>A | GRCh38 |
| NC_000014.8:g.50605450T>A , CM000676.1:g.50605450T>A | GRCh37 |
| NC_000014.7:g.49675200T>A | NCBI36 |
| NG_051073.1:g.97962A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.2838A>T MANE Select | NP_008870.2:p.Leu946Phe |
| ENST00000216373.10:c.2838A>T MANE Select | ENSP00000216373.5:p.Leu946Phe |
| NM_006939.2:c.2838A>T | NP_008870.2:p.Leu946Phe |
| NM_006939.3:c.2838A>T | NP_008870.2:p.Leu946Phe |
| ENST00000216373.9:c.2838A>T | ENSP00000216373.5:p.Leu946Phe |
| ENST00000543680.5:c.2739A>T | ENSP00000445328.1:p.Leu913Phe |
| XM_005268021.1:c.2658A>T | XP_005268078.1:p.Leu886Phe |
| XM_011537103.1:c.2799A>T | XP_011535405.1:p.Leu933Phe |
| XM_011537104.1:c.2785+1210A>T | XP_011535406.1:n.2785+1210A>T |