Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108075062G>T , CM000668.2:g.108075062G>T | GRCh38 |
| NC_000006.11:g.108396266G>T , CM000668.1:g.108396266G>T | GRCh37 |
| NC_000006.10:g.108502959G>T | NCBI36 |
| NG_007262.1:g.4676C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000440575.6:c.-39-10763C>A | ENSP00000398556.2:n.-39-10763C>A |
| ENST00000699580.1:c.-43C>A | ENSP00000514454.1:n.-43C>A |
| ENST00000699581.1:c.-39-10763C>A | ENSP00000514455.1:n.-39-10763C>A |