Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46297273G>A , CM000664.2:g.46297273G>A | GRCh38 |
| NC_000002.11:g.46524412G>A , CM000664.1:g.46524412G>A | GRCh37 |
| NC_000002.10:g.46377916G>A | NCBI36 |
| NG_016000.1:g.4872G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000449347.5:c.-170-469G>A | ENSP00000406137.1:n.-170-469G>A |
| ENST00000460015.1:n.432+3175G>A | |
| XR_940055.1:n.2502-3126C>T |