Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045026G= , CM000674.2:g.5045026G= | GRCh38 |
| NC_000012.11:g.5154192G= , CM000674.1:g.5154192G= | GRCh37 |
| NC_000012.10:g.5024453G= | NCBI36 |
| NG_012198.1:g.6108G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.879G= MANE Select | ENSP00000252321.3:p.Ala293= | |
| ENST00000252321.4:c.879G= | ENSP00000252321.3:p.Ala293= | |
| NM_002234.3:c.879G= | NP_002225.2:p.Ala293= | |
| NM_002234.4:c.879G= MANE Select | NP_002225.2:p.Ala293= |