Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139472880T>A , CM000666.2:g.139472880T>A | GRCh38 |
| NC_000004.11:g.140394034T>A , CM000666.1:g.140394034T>A | GRCh37 |
| NC_000004.10:g.140613484T>A | NCBI36 |
| NG_051587.1:g.24649T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031296.3:c.444T>A MANE Select | NP_112586.1:p.Asn148Lys |
| ENST00000305626.6:c.444T>A MANE Select | ENSP00000306496.5:p.Asn148Lys |
| NM_031296.1:c.444T>A | NP_112586.1:p.Asn148Lys |
| NM_031296.2:c.444T>A | NP_112586.1:p.Asn148Lys |
| ENST00000305626.5:c.444T>A | ENSP00000306496.5:p.Asn148Lys |
| ENST00000652268.1:c.588T>A | ENSP00000498778.1:p.Asn196Lys |
| XM_011532299.1:c.588T>A | XP_011530601.1:p.Asn196Lys |