Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.132785151C>T , CM000672.2:g.132785151C>T | GRCh38 |
| NC_000010.10:g.134598655C>T , CM000672.1:g.134598655C>T | GRCh37 |
| NC_000010.9:g.134448645C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_177400.3:c.599G>A MANE Select | NP_796374.2:p.Arg200Gln |
| ENST00000368592.8:c.599G>A MANE Select | ENSP00000357581.5:p.Arg200Gln |
| NM_177400.2:c.599G>A | NP_796374.1:p.Arg200Gln |
| ENST00000368592.7:c.599G>A | ENSP00000357581.5:p.Arg200Gln |
| XM_017016789.2:c.599G>A | XP_016872278.1:p.Arg200Gln |