Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.106140931A>C , CM000668.2:g.106140931A>C | GRCh38 |
| NC_000006.11:g.106588806A>C , CM000668.1:g.106588806A>C | GRCh37 |
| NC_000006.10:g.106695499A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000636335.1:c.457+61041T>G | ENSP00000490221.1:n.457+61041T>G |
| ENST00000636437.1:c.457+61041T>G | ENSP00000490376.1:n.457+61041T>G |