Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.38914713T= , CM000663.2:g.38914713T= | GRCh38 |
| NC_000001.10:g.39380385T= , CM000663.1:g.39380385T= | GRCh37 |
| NC_000001.9:g.39152972T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017821.5:c.395+849A= MANE Select | NP_060291.2:n.395+849A= |
| ENST00000372990.6:c.395+849A= MANE Select | ENSP00000362081.1:n.395+849A= |
| NM_001304746.1:c.635+849A= | NP_001291675.1:n.635+849A= |
| NM_001304746.2:c.635+849A= | NP_001291675.1:n.635+849A= |
| NM_017821.4:c.395+849A= | NP_060291.2:n.395+849A= |
| ENST00000289248.6:c.395+849A= | ENSP00000289248.2:n.395+849A= |
| ENST00000372990.5:c.395+849A= | ENSP00000362081.1:n.395+849A= |
| XR_001737994.1:n.89+1085T= |