Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47580977G= , CM000673.2:g.47580977G= | GRCh38 |
| NC_000011.9:g.47602529G= , CM000673.1:g.47602529G= | GRCh37 |
| NC_000011.8:g.47559105G= | NCBI36 |
| NG_011946.1:g.6968G= | |
| NG_011946.2:g.6968G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004551.3:c.374G= MANE Select | NP_004542.1:p.Arg125= |
| ENST00000263774.9:c.374G= MANE Select | ENSP00000263774.4:p.Arg125= |
| NM_004551.2:c.374G= | NP_004542.1:p.Arg125= |
| ENST00000263774.8:c.374G= | ENSP00000263774.4:p.Arg125= |
| ENST00000524568.1:n.477G= | |
| ENST00000528192.5:c.374G= | ENSP00000432099.1:p.Arg125= |
| ENST00000531351.1:n.289G= | |
| ENST00000531351.2:n.331G= | |
| ENST00000533507.5:n.1268G= | |
| ENST00000534716.2:c.374G= | ENSP00000434970.2:p.Arg125= |
| ENST00000677462.1:n.1745G= | |
| ENST00000678975.1:n.1528G= |