Linked Data
dbSNP Id:
rs773588886
ExAC:
3:50129547 C / T
gnomAD v2:
3-50129547-C-T
gnomAD v4:
3-50092114-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50092114C>T , CM000665.2:g.50092114C>T | GRCh38 |
| NC_000003.11:g.50129547C>T , CM000665.1:g.50129547C>T | GRCh37 |
| NC_000003.10:g.50104551C>T | NCBI36 |
| NG_030403.1:g.8207C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347869.8:c.89C>T (RBM5) MANE Select | ENSP00000343054.3:p.Ser30Phe | |
| ENST00000347869.7:c.89C>T (RBM5) | ENSP00000343054.3:p.Ser30Phe | |
| ENST00000404526.6:c.89C>T (RBM5) | ENSP00000384872.2:p.Ser30Phe | |
| ENST00000417905.1:c.89C>T (RBM5) | ENSP00000406119.1:p.Ser30Phe | |
| ENST00000433556.6:n.218C>T (RBM5) | ||
| ENST00000434592.5:c.*1109C>T (RBM6) | ENSP00000399942.1:n.*1109C>T | |
| ENST00000437500.5:c.89C>T (RBM5) | ENSP00000394622.1:p.Ser30Phe | |
| ENST00000438369.5:c.89C>T (RBM5) | ENSP00000414218.1:p.Ser30Phe | |
| ENST00000441305.5:c.89C>T (RBM5) | ENSP00000390711.1:p.Ser30Phe | |
| ENST00000464087.6:n.209C>T (RBM5) | ||
| ENST00000469838.5:c.89C>T (RBM5) | ENSP00000419534.1:p.Ser30Phe | |
| ENST00000492472.1:n.197C>T (RBM5) | ||
| NM_005778.3:c.89C>T (RBM5) | NP_005769.1:p.Ser30Phe | |
| NR_036627.2:n.264C>T (RBM5) | ||
| XM_006712917.1:c.89C>T (RBM5) | XP_006712980.1:p.Ser30Phe | |
| XM_011533261.1:c.89C>T (RBM5) | XP_011531563.1:p.Ser30Phe | |
| XM_011533262.1:c.89C>T (RBM5) | XP_011531564.1:p.Ser30Phe | |
| XR_427245.1:n.264C>T (RBM5) | ||
| XM_006712917.2:c.89C>T (RBM5) | XP_006712980.1:p.Ser30Phe | |
| XM_011533261.2:c.89C>T (RBM5) | XP_011531563.1:p.Ser30Phe | |
| XM_011533262.2:c.89C>T (RBM5) | XP_011531564.1:p.Ser30Phe | |
| XM_017005503.1:c.89C>T (RBM5) | XP_016860992.1:p.Ser30Phe | |
| XM_017005504.2:c.89C>T (RBM5) | XP_016860993.1:p.Ser30Phe | |
| XM_017005505.1:c.-592C>T (RBM5) | XP_016860994.1:n.-592C>T | |
| XM_024453289.1:c.-518C>T (RBM5) | XP_024309057.1:n.-518C>T | |
| XM_024453290.1:c.-3549C>T (RBM5) | XP_024309058.1:n.-3549C>T | |
| XR_427245.2:n.253C>T (RBM5) | ||
| NM_005778.4:c.89C>T (RBM5) MANE Select | NP_005769.1:p.Ser30Phe | |
| NR_036627.3:n.253C>T (RBM5) |