Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23820532C= , CM000663.2:g.23820532C= | GRCh38 |
| NC_000001.10:g.24147022C= , CM000663.1:g.24147022C= | GRCh37 |
| NC_000001.9:g.24019609C= | NCBI36 |
| NG_013061.1:g.9928G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000191.3:c.122G= MANE Select | NP_000182.2:p.Arg41= |
| ENST00000374490.8:c.122G= MANE Select | ENSP00000363614.3:p.Arg41= |
| NM_000191.2:c.122G= | NP_000182.2:p.Arg41= |
| NM_001166059.1:c.122G= | NP_001159531.1:p.Arg41= |
| NM_001166059.2:c.122G= | NP_001159531.1:p.Arg41= |
| ENST00000235958.4:c.109G= | |
| ENST00000374487.6:c.*163G= | ENSP00000363611.2:n.*163G= |
| ENST00000374490.7:c.122G= | ENSP00000363614.3:p.Arg41= |
| ENST00000436439.6:c.122G= | ENSP00000389281.2:p.Arg41= |
| ENST00000509389.5:n.134G= | |
| ENST00000513148.1:n.123G= |