Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.256751G>A , CM000669.2:g.256751G>A | GRCh38 |
| NC_000007.13:g.296717G>A , CM000669.1:g.296717G>A | GRCh37 |
| NG_033970.1:g.66387G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020223.4:c.1351G>A MANE Select | NP_064608.2:p.Asp451Asn |
| ENST00000313766.6:c.1351G>A MANE Select | ENSP00000322323.5:p.Asp451Asn |
| NM_020223.3:c.1351G>A | NP_064608.2:p.Asp451Asn |
| ENST00000313766.5:c.1351G>A | ENSP00000322323.5:p.Asp451Asn |
| ENST00000512382.1:n.557G>A | |
| ENST00000515795.1:n.1008G>A | |
| XM_017012450.1:c.1612G>A | XP_016867939.1:p.Asp538Asn |
| XM_017012451.1:c.1609G>A | XP_016867940.1:p.Asp537Asn |
| XM_017012455.2:c.649G>A | XP_016867944.1:p.Asp217Asn |
| XR_242097.3:n.1498G>A |