Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215648513T= , CM000663.2:g.215648513T= | GRCh38 |
| NC_000001.10:g.215821855T= , CM000663.1:g.215821855T= | GRCh37 |
| NC_000001.9:g.213888478T= | NCBI36 |
| NG_009497.1:g.779884A= | |
| NG_009497.2:g.779936A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.14582+15A= MANE Select | NP_996816.3:n.14582+15A= |
| ENST00000307340.8:c.14582+15A= MANE Select | ENSP00000305941.3:n.14582+15A= |
| NM_206933.2:c.14582+15A= | NP_996816.2:n.14582+15A= |
| NM_206933.3:c.14582+15A= | NP_996816.2:n.14582+15A= |
| ENST00000307340.7:c.14582+15A= | ENSP00000305941.3:n.14582+15A= |
| ENST00000674083.1:c.14582+15A= | ENSP00000501296.1:n.14582+15A= |