Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.106135045G>T , CM000668.2:g.106135045G>T | GRCh38 |
| NC_000006.11:g.106582920G>T , CM000668.1:g.106582920G>T | GRCh37 |
| NC_000006.10:g.106689613G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000636335.1:c.458-56730C>A | ENSP00000490221.1:n.458-56730C>A |
| ENST00000636437.1:c.457+66927C>A | ENSP00000490376.1:n.457+66927C>A |