Linked Data
ClinVar Variation Id:
2071769
ClinVar RCV Id:
RCV002962395
dbSNP Id:
rs762870297
ExAC:
5:177576785 G / T
gnomAD v2:
5-177576785-G-T
gnomAD v4:
5-178149784-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178149784G>T , CM000667.2:g.178149784G>T | GRCh38 |
| NC_000005.9:g.177576785G>T , CM000667.1:g.177576785G>T | GRCh37 |
| NC_000005.8:g.177509391G>T | NCBI36 |
| NG_011765.1:g.9177C>A , LRG_346:g.9177C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314397.9:c.*12C>A (NHP2) | ENSP00000366276.2:n.*12C>A | |
| ENST00000697323.1:n.292C>A (NHP2) | ||
| ENST00000274606.8:c.391C>A (NHP2) MANE Select | ENSP00000274606.4:p.Pro131Thr | |
| ENST00000313386.9:c.*1752G>T (RMND5B) MANE Select | ENSP00000320623.4:n.*1752G>T | |
| ENST00000274606.7:c.391C>A (NHP2) | ENSP00000274606.3:p.Pro131Thr | |
| ENST00000314397.8:c.*12C>A (NHP2) | ENSP00000366276.2:n.*12C>A | |
| ENST00000513162.5:n.4043G>T (RMND5B) | ||
| ENST00000515098.5:c.*1752G>T (RMND5B) | ENSP00000420875.1:n.*1752G>T | |
| NM_001034833.1:c.*12C>A (NHP2) | NP_001030005.1:n.*12C>A | |
| NM_017838.3:c.391C>A , LRG_346t1:c.391C>A (NHP2) | NP_060308.1:p.Pro131Thr | |
| NM_022762.5:c.*1752G>T (RMND5B) MANE Select | NP_073599.2:n.*1752G>T | |
| NM_017838.4:c.391C>A (NHP2) MANE Select | NP_060308.1:p.Pro131Thr | |
| NM_001034833.2:c.*12C>A (NHP2) | NP_001030005.1:n.*12C>A | |
| NM_001288794.2:c.*1752G>T (RMND5B) | NP_001275723.1:n.*1752G>T | |
| NM_001288795.2:c.*1752G>T (RMND5B) | NP_001275724.1:n.*1752G>T | |
| NM_001396110.1:c.*12C>A (NHP2) | NP_001383039.1:n.*12C>A |