Linked Data
ClinVar Variation Id:
2247
ClinVar RCV Id:
RCV000002335
dbSNP Id:
rs119103275
ExAC:
1:183556057 C / T
gnomAD v2:
1-183556057-C-T
gnomAD v3:
1-183586922-C-T
gnomAD v4:
1-183586922-C-T
PubMed:
PMID:10598813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183586922C>T , CM000663.2:g.183586922C>T | GRCh38 |
| NC_000001.10:g.183556057C>T , CM000663.1:g.183556057C>T | GRCh37 |
| NC_000001.9:g.181822680C>T | NCBI36 |
| NG_007267.1:g.8660G>A , LRG_88:g.8660G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697330.1:c.230G>A (NCF2) | ENSP00000513258.1:p.Arg77Gln | |
| ENST00000697351.1:c.230G>A (NCF2) | ENSP00000513276.1:p.Arg77Gln | |
| ENST00000697352.1:n.330G>A (NCF2) | ||
| ENST00000697353.1:n.343G>A (NCF2) | ||
| ENST00000367535.8:c.230G>A (NCF2) MANE Select | ENSP00000356505.4:p.Arg77Gln | |
| ENST00000367535.7:c.230G>A (NCF2) | ENSP00000356505.3:p.Arg77Gln | |
| ENST00000367536.5:c.230G>A (NCF2) | ENSP00000356506.1:p.Arg77Gln | |
| ENST00000413720.5:c.230G>A (NCF2) | ENSP00000399294.1:p.Arg77Gln | |
| ENST00000418089.5:c.230G>A (NCF2) | ENSP00000407217.1:p.Arg77Gln | |
| ENST00000495321.1:n.234-10847C>T (SMG7) | ||
| NM_000433.3:c.230G>A , LRG_88t1:c.230G>A (NCF2) | NP_000424.2:p.Arg77Gln | |
| NM_001127651.2:c.230G>A (NCF2) | NP_001121123.1:p.Arg77Gln | |
| NM_001190789.1:c.230G>A (NCF2) | NP_001177718.1:p.Arg77Gln | |
| NM_001190794.1:c.230G>A (NCF2) | NP_001177723.1:p.Arg77Gln | |
| XM_005245207.1:c.230G>A (NCF2) | XP_005245264.1:p.Arg77Gln | |
| XM_011509580.1:c.230G>A (NCF2) | XP_011507882.1:p.Arg77Gln | |
| XM_011509581.1:c.230G>A (NCF2) | XP_011507883.1:p.Arg77Gln | |
| XR_921801.1:n.434G>A (NCF2) | ||
| NM_000433.4:c.230G>A (NCF2) MANE Select | NP_000424.2:p.Arg77Gln | |
| NM_001127651.3:c.230G>A (NCF2) | NP_001121123.1:p.Arg77Gln | |
| NM_001190789.2:c.230G>A (NCF2) | NP_001177718.1:p.Arg77Gln | |
| NM_001190794.2:c.230G>A (NCF2) | NP_001177723.1:p.Arg77Gln |