Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31331787G>T , CM000680.2:g.31331787G>T | GRCh38 |
| NC_000018.9:g.28911750G>T , CM000680.1:g.28911750G>T | GRCh37 |
| NC_000018.8:g.27165748G>T | NCBI36 |
| NG_011803.2:g.18699G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001942.4:c.604G>T MANE Select | NP_001933.2:p.Glu202Ter |
| ENST00000257192.5:c.604G>T MANE Select | ENSP00000257192.4:p.Glu202Ter |
| NM_001942.3:c.604G>T | NP_001933.2:p.Glu202Ter |
| ENST00000257192.4:c.604G>T | ENSP00000257192.4:p.Glu202Ter |