Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21550753C>T , CM000684.2:g.21550753C>T | GRCh38 |
| NC_000022.10:g.21905042C>T , CM000684.1:g.21905042C>T | GRCh37 |
| NC_000022.9:g.20235042C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001128633.2:c.224G>A (RIMBP3C) MANE Select | NP_001122105.1:p.Arg75His |
| ENST00000433039.2:c.224G>A (RIMBP3C) MANE Select | ENSP00000390630.1:p.Arg75His |
| NM_001128633.1:c.224G>A (RIMBP3C) | NP_001122105.1:p.Arg75His |
| NM_001256355.1:c.201+1103C>T (UBE2L3) | NP_001243284.1:n.201+1103C>T |
| ENST00000331505.5:c.-59G>A (RIMBP3C) | ENSP00000350885.4:n.-59G>A |
| ENST00000433039.1:c.224G>A (RIMBP3C) | ENSP00000390630.1:p.Arg75His |
| ENST00000458578.6:c.201+1103C>T (UBE2L3) | ENSP00000400906.2:n.201+1103C>T |