Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80708053G= , CM000674.2:g.80708053G= | GRCh38 |
| NC_000012.11:g.81101832G= , CM000674.1:g.81101832G= | GRCh37 |
| NC_000012.10:g.79625963G= | NCBI36 |
| NG_021392.1:g.5425G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002469.3:c.334G= MANE Select | NP_002460.1:p.Ala112= |
| ENST00000228641.4:c.334G= MANE Select | ENSP00000228641.3:p.Ala112= |
| NM_002469.2:c.334G= | NP_002460.1:p.Ala112= |
| ENST00000228641.3:c.334G= | ENSP00000228641.3:p.Ala112= |