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