Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.10041404C= , CM000666.2:g.10041404C= | GRCh38 |
| NC_000004.11:g.10043028C= , CM000666.1:g.10043028C= | GRCh37 |
| NC_000004.10:g.9652126C= | NCBI36 |
| NG_011540.1:g.3845G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506583.5:c.-175-1140G= | ENSP00000422209.1:n.-175-1140G= | |
| ENST00000513129.1:c.-41+13429G= | ENSP00000426800.1:n.-41+13429G= |