Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35856473T= , CM000667.2:g.35856473T= | GRCh38 |
| NC_000005.9:g.35856575T= , CM000667.1:g.35856575T= | GRCh37 |
| NC_000005.8:g.35892332T= | NCBI36 |
| NG_009567.1:g.4585T= , LRG_74:g.4585T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508941.5:c.-2+304T= | ENSP00000426426.1:n.-2+304T= | |
| ENST00000511031.1:n.216+3535T= | ||
| ENST00000515665.1:c.-216T= | ENSP00000425538.1:n.-216T= | |
| XR_001742635.1:n.1534-2087A= |