Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40197315A>T , CM000674.2:g.40197315A>T | GRCh38 |
| NC_000012.11:g.40591117A>T , CM000674.1:g.40591117A>T | GRCh37 |
| NC_000012.10:g.38877384A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416796.5:c.-63+542A>T | ENSP00000398726.1:n.-63+542A>T |