Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31331787G= , CM000680.2:g.31331787G= | GRCh38 |
| NC_000018.9:g.28911750G= , CM000680.1:g.28911750G= | GRCh37 |
| NC_000018.8:g.27165748G= | NCBI36 |
| NG_011803.2:g.18699G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001942.4:c.604G= MANE Select | NP_001933.2:p.Glu202= |
| ENST00000257192.5:c.604G= MANE Select | ENSP00000257192.4:p.Glu202= |
| NM_001942.3:c.604G= | NP_001933.2:p.Glu202= |
| ENST00000257192.4:c.604G= | ENSP00000257192.4:p.Glu202= |