Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.77344225G>A , CM000674.2:g.77344225G>A | GRCh38 |
| NC_000012.11:g.77738005G>A , CM000674.1:g.77738005G>A | GRCh37 |
| NC_000012.10:g.76262136G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550042.2:c.-337+19011G>A | ENSP00000489639.1:n.-337+19011G>A | |
| XR_945127.1:n.217-13743C>T |