Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117439578G>T , CM000674.2:g.117439578G>T | GRCh38 |
| NC_000012.11:g.117877383G>T , CM000674.1:g.117877383G>T | GRCh37 |
| NC_000012.10:g.116361766G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549189.1:n.470+12123C>A |