Linked Data
ClinVar Variation Id:
1554146
ClinVar RCV Id:
RCV002190022
dbSNP Id:
rs2113463130
gnomAD v4:
5-178149809-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178149809G>C , CM000667.2:g.178149809G>C | GRCh38 |
| NC_000005.9:g.177576810G>C , CM000667.1:g.177576810G>C | GRCh37 |
| NC_000005.8:g.177509416G>C | NCBI36 |
| NG_011765.1:g.9152C>G , LRG_346:g.9152C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314397.9:c.260C>G (NHP2) | ENSP00000366276.2:p.Ala87Gly | |
| ENST00000697323.1:n.267C>G (NHP2) | ||
| ENST00000274606.8:c.366C>G (NHP2) MANE Select | ENSP00000274606.4:p.Arg122= | |
| ENST00000313386.9:c.*1777G>C (RMND5B) MANE Select | ENSP00000320623.4:n.*1777G>C | |
| ENST00000274606.7:c.366C>G (NHP2) | ENSP00000274606.3:p.Arg122= | |
| ENST00000314397.8:c.260C>G (NHP2) | ENSP00000366276.2:p.Ala87Gly | |
| ENST00000513162.5:n.4068G>C (RMND5B) | ||
| ENST00000515098.5:c.*1777G>C (RMND5B) | ENSP00000420875.1:n.*1777G>C | |
| NM_001034833.1:c.260C>G (NHP2) | NP_001030005.1:p.Ala87Gly | |
| NM_017838.3:c.366C>G , LRG_346t1:c.366C>G (NHP2) | NP_060308.1:p.Arg122= | |
| NM_022762.5:c.*1777G>C (RMND5B) MANE Select | NP_073599.2:n.*1777G>C | |
| NM_017838.4:c.366C>G (NHP2) MANE Select | NP_060308.1:p.Arg122= | |
| NM_001034833.2:c.260C>G (NHP2) | NP_001030005.1:p.Ala87Gly | |
| NM_001288794.2:c.*1777G>C (RMND5B) | NP_001275723.1:n.*1777G>C | |
| NM_001288795.2:c.*1777G>C (RMND5B) | NP_001275724.1:n.*1777G>C | |
| NM_001396110.1:c.494C>G (NHP2) | NP_001383039.1:p.Ala165Gly |