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