Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940327A= , CM000678.2:g.67940327A= | GRCh38 |
| NC_000016.9:g.67974230A= , CM000678.1:g.67974230A= | GRCh37 |
| NC_000016.8:g.66531731A= | NCBI36 |
| NG_009778.1:g.8786T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.900T= MANE Select | ENSP00000264005.5:p.Arg300= | |
| ENST00000264005.9:c.900T= | ENSP00000264005.5:p.Arg300= | |
| ENST00000570369.5:c.156-253T= | ||
| ENST00000570980.1:c.684T= | ENSP00000464651.1:p.Arg228= | |
| ENST00000573538.5:c.638T= | ENSP00000463220.1:n.638T= | |
| NM_000229.1:c.900T= | NP_000220.1:p.Arg300= | |
| NM_000229.2:c.900T= MANE Select | NP_000220.1:p.Arg300= |