Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32043363G>A , CM000684.2:g.32043363G>A | GRCh38 |
| NC_000022.10:g.32439350G>A , CM000684.1:g.32439350G>A | GRCh37 |
| NC_000022.9:g.30769350G>A | NCBI36 |
| NG_017045.1:g.5332G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000343.4:c.82G>A MANE Select | NP_000334.1:p.Asp28Asn |
| ENST00000266088.9:c.82G>A MANE Select | ENSP00000266088.4:p.Asp28Asn |
| NM_000343.3:c.82G>A | NP_000334.1:p.Asp28Asn |
| ENST00000266088.8:c.82G>A | ENSP00000266088.4:p.Asp28Asn |
| XM_011530331.1:c.82G>A | XP_011528633.1:p.Asp28Asn |