Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32689667G>A , CM000667.2:g.32689667G>A | GRCh38 |
| NC_000005.9:g.32689773G>A , CM000667.1:g.32689773G>A | GRCh37 |
| NC_000005.8:g.32725530G>A | NCBI36 |
| NG_028162.2:g.5592G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000509104.5:c.100+481G>A | ENSP00000425325.1:n.100+481G>A |
| XM_011514047.1:c.100+481G>A | XP_011512349.1:n.100+481G>A |
| XM_011514047.2:c.100+481G>A | XP_011512349.1:n.100+481G>A |