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