Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66230902G>A , CM000673.2:g.66230902G>A | GRCh38 |
| NC_000011.9:g.65998373G>A , CM000673.1:g.65998373G>A | GRCh37 |
| NC_000011.8:g.65754949G>A | NCBI36 |
| NG_033900.1:g.165550G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018026.4:c.1588G>A MANE Select | NP_060496.2:p.Asp530Asn |
| ENST00000320580.9:c.1588G>A MANE Select | ENSP00000316454.4:p.Asp530Asn |
| NM_018026.3:c.1588G>A | NP_060496.2:p.Asp530Asn |
| ENST00000320580.8:c.1588G>A | ENSP00000316454.4:p.Asp530Asn |
| ENST00000529757.5:c.196G>A | ENSP00000432858.1:p.Asp66Asn |
| XM_011545162.1:c.1267G>A | XP_011543464.1:p.Asp423Asn |
| XM_011545163.1:c.1258G>A | XP_011543465.1:p.Asp420Asn |
| XM_011545164.1:c.1249G>A | XP_011543466.1:p.Asp417Asn |
| XM_011545164.2:c.1249G>A | XP_011543466.1:p.Asp417Asn |