Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139472989A>G , CM000666.2:g.139472989A>G | GRCh38 |
| NC_000004.11:g.140394143A>G , CM000666.1:g.140394143A>G | GRCh37 |
| NC_000004.10:g.140613593A>G | NCBI36 |
| NG_051587.1:g.24758A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031296.3:c.553A>G MANE Select | NP_112586.1:p.Asn185Asp |
| ENST00000305626.6:c.553A>G MANE Select | ENSP00000306496.5:p.Asn185Asp |
| NM_031296.1:c.553A>G | NP_112586.1:p.Asn185Asp |
| NM_031296.2:c.553A>G | NP_112586.1:p.Asn185Asp |
| ENST00000305626.5:c.553A>G | ENSP00000306496.5:p.Asn185Asp |
| ENST00000652268.1:c.697A>G | ENSP00000498778.1:p.Asn233Asp |
| XM_011532299.1:c.697A>G | XP_011530601.1:p.Asn233Asp |