Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29466637G>T , CM000668.2:g.29466637G>T | GRCh38 |
| NC_000006.11:g.29434414G>T , CM000668.1:g.29434414G>T | GRCh37 |
| NC_000006.10:g.29542393G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457888.2:n.23-1682C>A |