Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117439645A>G , CM000674.2:g.117439645A>G | GRCh38 |
| NC_000012.11:g.117877450A>G , CM000674.1:g.117877450A>G | GRCh37 |
| NC_000012.10:g.116361833A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549189.1:n.470+12056T>C |