Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3862337C= , CM000682.2:g.3862337C= | GRCh38 |
| NC_000020.10:g.3842984C= , CM000682.1:g.3842984C= | GRCh37 |
| NC_000020.9:g.3790984C= | NCBI36 |
| NG_030028.1:g.20539C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020746.5:c.549C= MANE Select | NP_065797.2:p.Asp183= |
| ENST00000428216.4:c.549C= MANE Select | ENSP00000401980.2:p.Asp183= |
| NM_001206491.1:c.126C= | NP_001193420.1:p.Asp42= |
| NM_001206491.2:c.126C= | NP_001193420.1:p.Asp42= |
| NM_001385663.1:c.126C= | NP_001372592.1:p.Asp42= |
| NM_020746.4:c.549C= | NP_065797.2:p.Asp183= |
| NR_037921.1:n.548C= | |
| NR_037921.2:n.513C= | |
| ENST00000416600.6:c.126C= | ENSP00000413749.2:p.Asp42= |
| ENST00000428216.3:c.549C= | ENSP00000401980.2:p.Asp183= |