Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89218967T>A , CM000677.2:g.89218967T>A | GRCh38 |
| NC_000015.9:g.89762198T>A , CM000677.1:g.89762198T>A | GRCh37 |
| NC_000015.8:g.87563202T>A | NCBI36 |
| NG_008116.1:g.7725A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000326.5:c.9A>T MANE Select | NP_000317.1:p.Glu3Asp |
| ENST00000268125.10:c.9A>T MANE Select | ENSP00000268125.5:p.Glu3Asp |
| NM_000326.4:c.9A>T | NP_000317.1:p.Glu3Asp |
| ENST00000268125.9:c.9A>T | ENSP00000268125.5:p.Glu3Asp |
| ENST00000567787.1:c.9A>T | ENSP00000457251.1:p.Glu3Asp |
| XM_011521870.1:c.9A>T | XP_011520172.1:p.Glu3Asp |
| XM_011521870.2:c.9A>T | XP_011520172.1:p.Glu3Asp |