Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189283T>A , CM000675.2:g.20189283T>A | GRCh38 |
| NC_000013.10:g.20763422T>A , CM000675.1:g.20763422T>A | GRCh37 |
| NC_000013.9:g.19661422T>A | NCBI36 |
| NG_008358.1:g.8693A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004004.6:c.299A>T MANE Select | NP_003995.2:p.His100Leu |
| ENST00000382848.5:c.299A>T MANE Select | ENSP00000372299.4:p.His100Leu |
| NM_004004.5:c.299A>T | NP_003995.2:p.His100Leu |
| ENST00000382844.1:c.299A>T | ENSP00000372295.1:p.His100Leu |
| ENST00000382844.2:c.299A>T | ENSP00000372295.1:p.His100Leu |
| ENST00000382848.4:c.299A>T | ENSP00000372299.4:p.His100Leu |
| XM_011535049.1:c.299A>T | XP_011533351.1:p.His100Leu |
| XM_011535049.2:c.299A>T | XP_011533351.1:p.His100Leu |