Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940089A= , CM000678.2:g.67940089A= | GRCh38 |
| NC_000016.9:g.67973992A= , CM000678.1:g.67973992A= | GRCh37 |
| NC_000016.8:g.66531493A= | NCBI36 |
| NG_009778.1:g.9024T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1138T= MANE Select | ENSP00000264005.5:p.Cys380= | |
| ENST00000264005.9:c.1138T= | ENSP00000264005.5:p.Cys380= | |
| ENST00000570369.5:c.156-15T= | ||
| ENST00000573538.5:c.876T= | ENSP00000463220.1:n.876T= | |
| NM_000229.1:c.1138T= | NP_000220.1:p.Cys380= | |
| NM_000229.2:c.1138T= MANE Select | NP_000220.1:p.Cys380= |