Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228158476C= , CM000663.2:g.228158476C= | GRCh38 |
| NC_000001.10:g.228346177C= , CM000663.1:g.228346177C= | GRCh37 |
| NC_000001.9:g.226412800C= | NCBI36 |
| NG_011838.1:g.13625C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020435.4:c.718C= MANE Select | NP_065168.2:p.Arg240= |
| ENST00000366714.3:c.718C= MANE Select | ENSP00000355675.2:p.Arg240= |
| NM_020435.3:c.718C= | NP_065168.2:p.Arg240= |
| ENST00000366714.2:c.718C= | ENSP00000355675.2:p.Arg240= |