Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6107570G= , CM000682.2:g.6107570G= | GRCh38 |
| NC_000020.10:g.6088217G= , CM000682.1:g.6088217G= | GRCh37 |
| NC_000020.9:g.6036217G= | NCBI36 |
| NG_016213.1:g.20975C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.811C= MANE Select | NP_060141.3:p.Arg271= |
| ENST00000217289.9:c.811C= MANE Select | ENSP00000217289.4:p.Arg271= |
| NM_017671.4:c.811C= | NP_060141.3:p.Arg271= |
| ENST00000217289.8:c.811C= | ENSP00000217289.4:p.Arg271= |
| ENST00000536936.1:c.40C= | ENSP00000441063.1:p.Arg14= |
| ENST00000699095.1:c.811C= | ENSP00000514127.1:p.Arg271= |
| ENST00000699096.1:n.1273C= | |
| ENST00000699098.1:c.811C= | ENSP00000514312.1:p.Arg271= |
| XM_024451935.1:c.811C= | XP_024307703.1:p.Arg271= |