Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.81541443T= , CM000666.2:g.81541443T= | GRCh38 |
| NC_000004.11:g.82462597T= , CM000666.1:g.82462597T= | GRCh37 |
| NC_000004.10:g.82681621T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000512716.1:c.-140-19898A= | ENSP00000476065.1:n.-140-19898A= |
| ENST00000638048.1:c.255+61396A= | ENSP00000490436.1:n.255+61396A= |