Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.22318450G>C , CM000686.2:g.22318450G>C | GRCh38 |
| NC_000024.9:g.24464597G>C , CM000686.1:g.24464597G>C | GRCh37 |
| NC_000024.8:g.22873985G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_104151.1:n.71-333G>C | |
| ENST00000414629.6:c.-5+9480G>C (RBMY1J) | ENSP00000405745.2:n.-5+9480G>C |
| ENST00000420346.1:n.545-333G>C (RBMY2FP) | |
| ENST00000445779.6:c.-5+9480G>C (RBMY1J) | ENSP00000389621.2:n.-5+9480G>C |