Linked Data
dbSNP Id:
rs113205611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.22318400T>C , CM000686.2:g.22318400T>C | GRCh38 |
| NC_000024.9:g.24464547T>C , CM000686.1:g.24464547T>C | GRCh37 |
| NC_000024.8:g.22873935T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414629.6:c.-5+9430T>C (RBMY1J) | ENSP00000405745.2:n.-5+9430T>C | |
| ENST00000420346.1:n.545-383T>C (RBMY2FP) | ||
| ENST00000445779.6:c.-5+9430T>C (RBMY1J) | ENSP00000389621.2:n.-5+9430T>C | |
| NR_104151.1:n.71-383T>C |