Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89295277C= , CM000673.2:g.89295277C= | GRCh38 |
| NC_000011.9:g.89028445C= , CM000673.1:g.89028445C= | GRCh37 |
| NC_000011.8:g.88668093C= | NCBI36 |
| NG_008748.1:g.122406C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1501C= MANE Select | ENSP00000263321.4:p.Arg501= | |
| ENST00000263321.5:c.1501C= | ENSP00000263321.4:p.Arg501= | |
| ENST00000528243.1:n.499C= | ||
| NM_000372.4:c.1501C= | NP_000363.1:p.Arg501= | |
| NM_000372.5:c.1501C= MANE Select | NP_000363.1:p.Arg501= |