Linked Data
ClinVar Variation Id:
197668
dbSNP Id:
rs17849501
ExAC:
1:183542323 C / T
gnomAD v2:
1-183542323-C-T
gnomAD v3:
1-183573188-C-T
gnomAD v4:
1-183573188-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183573188C>T , CM000663.2:g.183573188C>T | GRCh38 |
| NC_000001.10:g.183542323C>T , CM000663.1:g.183542323C>T | GRCh37 |
| NC_000001.9:g.181808946C>T | NCBI36 |
| NG_007267.1:g.22394G>A , LRG_88:g.22394G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697329.1:n.526G>A (NCF2) | ||
| ENST00000697330.1:c.606G>A (NCF2) | ENSP00000513258.1:p.Ala202= | |
| ENST00000697351.1:c.501+1299G>A (NCF2) | ENSP00000513276.1:n.501+1299G>A | |
| ENST00000367535.8:c.606G>A (NCF2) MANE Select | ENSP00000356505.4:p.Ala202= | |
| ENST00000367535.7:c.606G>A (NCF2) | ENSP00000356505.3:p.Ala202= | |
| ENST00000367536.5:c.606G>A (NCF2) | ENSP00000356506.1:p.Ala202= | |
| ENST00000413720.5:c.471G>A (NCF2) | ENSP00000399294.1:p.Ala157= | |
| ENST00000418089.5:c.367-2349G>A (NCF2) | ENSP00000407217.1:n.367-2349G>A | |
| ENST00000495321.1:n.233+21998C>T (SMG7) | ||
| NM_000433.3:c.606G>A , LRG_88t1:c.606G>A (NCF2) | NP_000424.2:p.Ala202= | |
| NM_001127651.2:c.606G>A (NCF2) | NP_001121123.1:p.Ala202= | |
| NM_001190789.1:c.367-2349G>A (NCF2) | NP_001177718.1:n.367-2349G>A | |
| NM_001190794.1:c.471G>A (NCF2) | NP_001177723.1:p.Ala157= | |
| XM_005245207.1:c.501+1299G>A (NCF2) | XP_005245264.1:n.501+1299G>A | |
| XM_011509580.1:c.606G>A (NCF2) | XP_011507882.1:p.Ala202= | |
| XM_011509581.1:c.606G>A (NCF2) | XP_011507883.1:p.Ala202= | |
| XR_921801.1:n.810G>A (NCF2) | ||
| NM_000433.4:c.606G>A (NCF2) MANE Select | NP_000424.2:p.Ala202= | |
| NM_001127651.3:c.606G>A (NCF2) | NP_001121123.1:p.Ala202= | |
| NM_001190789.2:c.367-2349G>A (NCF2) | NP_001177718.1:n.367-2349G>A | |
| NM_001190794.2:c.471G>A (NCF2) | NP_001177723.1:p.Ala157= |