Linked Data
dbSNP Id:
rs10808746
gnomAD v2:
8-66644713-G-A
gnomAD v3:
8-65732478-G-A
gnomAD v4:
8-65732478-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.65732478G>A , CM000670.2:g.65732478G>A | GRCh38 |
| NC_000008.10:g.66644713G>A , CM000670.1:g.66644713G>A | GRCh37 |
| NC_000008.9:g.66807267G>A | NCBI36 |
| NG_029614.1:g.114257C>T | |
| NG_047112.1:g.93606G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401827.8:c.696+2316C>T (PDE7A) MANE Select | ENSP00000385632.4:n.696+2316C>T | |
| ENST00000379419.8:c.618+2316C>T (PDE7A) | ENSP00000368730.4:n.618+2316C>T | |
| ENST00000396642.7:c.696+2316C>T (PDE7A) | ENSP00000379881.3:n.696+2316C>T | |
| ENST00000401827.7:c.696+2316C>T (PDE7A) | ENSP00000385632.3:n.696+2316C>T | |
| ENST00000518667.1:n.543-847C>T (PDE7A) | ||
| ENST00000521247.6:c.483+12997G>A (MTFR1) | ENSP00000429253.2:n.483+12997G>A | |
| ENST00000527155.5:c.373+24467G>A (MTFR1) | ||
| NM_001242318.2:c.696+2316C>T (PDE7A) | NP_001229247.1:n.696+2316C>T | |
| NM_002603.3:c.618+2316C>T (PDE7A) | NP_002594.1:n.618+2316C>T | |
| XM_006716484.2:c.933+24467G>A (MTFR1) | XP_006716547.2:n.933+24467G>A | |
| XM_011517540.1:c.618+2316C>T (PDE7A) | XP_011515842.1:n.618+2316C>T | |
| XM_011517626.1:c.933+24467G>A (MTFR1) | XP_011515928.1:n.933+24467G>A | |
| XM_011517627.1:c.933+24467G>A (MTFR1) | XP_011515929.1:n.933+24467G>A | |
| XM_011517628.1:c.894+24467G>A (MTFR1) | XP_011515930.1:n.894+24467G>A | |
| XM_011517540.3:c.618+2316C>T (PDE7A) | XP_011515842.1:n.618+2316C>T | |
| XM_011517626.2:c.933+24467G>A (MTFR1) | XP_011515928.1:n.933+24467G>A | |
| XM_011517627.3:c.933+24467G>A (MTFR1) | XP_011515929.1:n.933+24467G>A | |
| XM_011517628.2:c.894+24467G>A (MTFR1) | XP_011515930.1:n.894+24467G>A | |
| XM_017013538.2:c.594+2316C>T (PDE7A) | XP_016869027.1:n.594+2316C>T | |
| NM_001242318.3:c.696+2316C>T (PDE7A) MANE Select | NP_001229247.1:n.696+2316C>T | |
| NM_002603.4:c.618+2316C>T (PDE7A) | NP_002594.1:n.618+2316C>T |