Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26200449A>G , CM000668.2:g.26200449A>G | GRCh38 |
| NC_000006.11:g.26200677A>G , CM000668.1:g.26200677A>G | GRCh37 |
| NC_000006.10:g.26308656A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000356530.5:c.*510A>G | ENSP00000348924.3:n.*510A>G |