Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223966923T>G , CM000664.2:g.223966923T>G | GRCh38 |
| NC_000002.11:g.224831640T>G , CM000664.1:g.224831640T>G | GRCh37 |
| NC_000002.10:g.224539884T>G | NCBI36 |
| NG_050679.1:g.21034T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022915.5:c.888T>G MANE Select | NP_075066.1:p.Ala296= |
| ENST00000258383.4:c.888T>G MANE Select | ENSP00000258383.3:p.Ala296= |
| NM_022915.3:c.888T>G | NP_075066.1:p.Ala296= |
| NM_022915.4:c.888T>G | NP_075066.1:p.Ala296= |
| ENST00000258383.3:c.888T>G | ENSP00000258383.3:p.Ala296= |
| XM_011511668.1:c.846T>G | XP_011509970.1:p.Ala282= |
| XM_011511668.2:c.846T>G | XP_011509970.1:p.Ala282= |