Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.10054752T>G , CM000666.2:g.10054752T>G | GRCh38 |
| NC_000004.11:g.10056376T>G , CM000666.1:g.10056376T>G | GRCh37 |
| NC_000004.10:g.9665474T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000506583.5:c.-176+81A>C | ENSP00000422209.1:n.-176+81A>C |
| ENST00000513129.1:c.-41+81A>C | ENSP00000426800.1:n.-41+81A>C |