Linked Data
ClinVar Variation Id:
256114
dbSNP Id:
rs36113295
ExAC:
1:183533175 A / C
gnomAD v2:
1-183533175-A-C
gnomAD v3:
1-183564040-A-C
gnomAD v4:
1-183564040-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183564040A>C , CM000663.2:g.183564040A>C | GRCh38 |
| NC_000001.10:g.183533175A>C , CM000663.1:g.183533175A>C | GRCh37 |
| NC_000001.9:g.181799798A>C | NCBI36 |
| NG_007267.1:g.31542T>G , LRG_88:g.31542T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000469280.2:n.12T>G (NCF2) | ||
| ENST00000697329.1:n.921-10T>G (NCF2) | ||
| ENST00000697330.1:c.1001-10T>G (NCF2) | ENSP00000513258.1:n.1001-10T>G | |
| ENST00000697351.1:c.893-10T>G (NCF2) | ENSP00000513276.1:n.893-10T>G | |
| ENST00000367535.8:c.1001-10T>G (NCF2) MANE Select | ENSP00000356505.4:n.1001-10T>G | |
| ENST00000367535.7:c.1001-10T>G (NCF2) | ENSP00000356505.3:n.1001-10T>G | |
| ENST00000367536.5:c.1001-10T>G (NCF2) | ENSP00000356506.1:n.1001-10T>G | |
| ENST00000413720.5:c.866-10T>G (NCF2) | ENSP00000399294.1:n.866-10T>G | |
| ENST00000418089.5:c.758-10T>G (NCF2) | ENSP00000407217.1:n.758-10T>G | |
| ENST00000419402.1:c.218-10T>G (NCF2) | ENSP00000406198.1:n.218-10T>G | |
| ENST00000420553.5:c.-47-10T>G (NCF2) | ENSP00000397228.1:n.-47-10T>G | |
| ENST00000469280.1:n.12T>G (NCF2) | ||
| ENST00000495321.1:n.233+12850A>C (SMG7) | ||
| NM_000433.3:c.1001-10T>G , LRG_88t1:c.1001-10T>G (NCF2) | NP_000424.2:n.1001-10T>G | |
| NM_001127651.2:c.1001-10T>G (NCF2) | NP_001121123.1:n.1001-10T>G | |
| NM_001190789.1:c.758-10T>G (NCF2) | NP_001177718.1:n.758-10T>G | |
| NM_001190794.1:c.866-10T>G (NCF2) | NP_001177723.1:n.866-10T>G | |
| XM_005245207.1:c.893-10T>G (NCF2) | XP_005245264.1:n.893-10T>G | |
| XM_011509580.1:c.1001-10T>G (NCF2) | XP_011507882.1:n.1001-10T>G | |
| XM_011509581.1:c.1001-10T>G (NCF2) | XP_011507883.1:n.1001-10T>G | |
| XR_921801.1:n.1063-10T>G (NCF2) | ||
| NM_000433.4:c.1001-10T>G (NCF2) MANE Select | NP_000424.2:n.1001-10T>G | |
| NM_001127651.3:c.1001-10T>G (NCF2) | NP_001121123.1:n.1001-10T>G | |
| NM_001190789.2:c.758-10T>G (NCF2) | NP_001177718.1:n.758-10T>G | |
| NM_001190794.2:c.866-10T>G (NCF2) | NP_001177723.1:n.866-10T>G |