Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.160393924C= , CM000667.2:g.160393924C= | GRCh38 |
| NC_000005.9:g.159820931C= , CM000667.1:g.159820931C= | GRCh37 |
| NC_000005.8:g.159753509C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408953.4:c.1567G= MANE Select | ENSP00000386184.3:p.Ala523= | |
| ENST00000408953.3:c.1567G= | ENSP00000386184.3:p.Ala523= | |
| ENST00000523213.1:c.1567G= | ENSP00000428831.1:p.Ala523= | |
| NM_001303251.1:c.1567G= | NP_001290180.1:p.Ala523= | |
| NM_022090.4:c.1567G= | NP_071373.2:p.Ala523= | |
| NM_022090.5:c.1567G= MANE Select | NP_071373.2:p.Ala523= | |
| NM_001303251.2:c.1567G= | NP_001290180.1:p.Ala523= |