Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110492105G= , CM000675.2:g.110492105G= | GRCh38 |
| NC_000013.10:g.111144452G= , CM000675.1:g.111144452G= | GRCh37 |
| NC_000013.9:g.109942453G= | NCBI36 |
| NG_032137.1:g.189822G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001846.4:c.3490G= MANE Select | NP_001837.2:p.Gly1164= |
| ENST00000360467.7:c.3490G= MANE Select | ENSP00000353654.5:p.Gly1164= |
| NM_001846.2:c.3490G= | NP_001837.2:p.Gly1164= |
| NM_001846.3:c.3490G= | NP_001837.2:p.Gly1164= |
| ENST00000360467.5:c.3490G= | ENSP00000353654.5:p.Gly1164= |
| ENST00000650225.1:n.1145G= |