Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.10041291T= , CM000666.2:g.10041291T= | GRCh38 |
| NC_000004.11:g.10042915T= , CM000666.1:g.10042915T= | GRCh37 |
| NC_000004.10:g.9652013T= | NCBI36 |
| NG_011540.1:g.3958A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000506583.5:c.-175-1027A= | ENSP00000422209.1:n.-175-1027A= |
| ENST00000513129.1:c.-41+13542A= | ENSP00000426800.1:n.-41+13542A= |