Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812322G>A , CM000664.2:g.218812322G>A | GRCh38 |
| NC_000002.11:g.219677045G>A , CM000664.1:g.219677045G>A | GRCh37 |
| NC_000002.10:g.219385289G>A | NCBI36 |
| NG_007959.1:g.35574G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.547G>A MANE Select | NP_000775.1:p.Asp183Asn |
| ENST00000258415.9:c.547G>A MANE Select | ENSP00000258415.4:p.Asp183Asn |
| NM_000784.3:c.547G>A | NP_000775.1:p.Asp183Asn |
| ENST00000258415.8:c.547G>A | ENSP00000258415.4:p.Asp183Asn |
| ENST00000411688.1:c.265G>A | ENSP00000392671.1:p.Asp89Asn |
| ENST00000445971.1:c.*8G>A | ENSP00000404945.1:n.*8G>A |
| ENST00000466602.1:n.365G>A | |
| ENST00000494263.5:n.981G>A | |
| XM_017003488.2:c.127G>A | XP_016858977.1:p.Asp43Asn |