Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.160393924C>A , CM000667.2:g.160393924C>A | GRCh38 |
| NC_000005.9:g.159820931C>A , CM000667.1:g.159820931C>A | GRCh37 |
| NC_000005.8:g.159753509C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022090.5:c.1567G>T MANE Select | NP_071373.2:p.Ala523Ser |
| ENST00000408953.4:c.1567G>T MANE Select | ENSP00000386184.3:p.Ala523Ser |
| NM_001303251.1:c.1567G>T | NP_001290180.1:p.Ala523Ser |
| NM_001303251.2:c.1567G>T | NP_001290180.1:p.Ala523Ser |
| NM_022090.4:c.1567G>T | NP_071373.2:p.Ala523Ser |
| ENST00000408953.3:c.1567G>T | ENSP00000386184.3:p.Ala523Ser |
| ENST00000523213.1:c.1567G>T | ENSP00000428831.1:p.Ala523Ser |