Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5923000G>A , CM000682.2:g.5923000G>A | GRCh38 |
| NC_000020.10:g.5903646G>A , CM000682.1:g.5903646G>A | GRCh37 |
| NC_000020.9:g.5851646G>A | NCBI36 |
| NG_042285.1:g.16673G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378961.9:c.856G>A MANE Select | ENSP00000368244.4:p.Gly286Arg | |
| ENST00000378961.8:c.856G>A | ENSP00000368244.4:p.Gly286Arg | |
| ENST00000455042.1:c.796G>A | ENSP00000416643.1:p.Gly266Arg | |
| NM_001819.2:c.856G>A | NP_001810.2:p.Gly286Arg | |
| NM_001819.3:c.856G>A MANE Select | NP_001810.2:p.Gly286Arg |