Linked Data
ClinVar Variation Id:
410311
dbSNP Id:
rs201728920
ExAC:
7:30638451 C / G
gnomAD v2:
7-30638451-C-G
gnomAD v3:
7-30598835-C-G
gnomAD v4:
7-30598835-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30598835C>G , CM000669.2:g.30598835C>G | GRCh38 |
| NC_000007.13:g.30638451C>G , CM000669.1:g.30638451C>G | GRCh37 |
| NC_000007.12:g.30604976C>G | NCBI36 |
| NG_007942.1:g.9271C>G , LRG_243:g.9271C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.262C>G MANE Select | ENSP00000373918.3:p.Gln88Glu | |
| ENST00000444666.6:c.262C>G | ENSP00000415447.2:p.Gln88Glu | |
| ENST00000454308.6:c.262C>G | ENSP00000392677.2:p.Gln88Glu | |
| ENST00000470392.2:n.352C>G | ||
| ENST00000478124.6:n.325C>G | ||
| ENST00000485784.2:n.341C>G | ||
| ENST00000674616.1:c.262C>G | ENSP00000502408.1:p.Gln88Glu | |
| ENST00000674643.1:c.262C>G | ENSP00000501636.1:p.Gln88Glu | |
| ENST00000674737.1:c.262C>G | ENSP00000502464.1:p.Gln88Glu | |
| ENST00000674807.1:c.262C>G | ENSP00000502814.1:p.Gln88Glu | |
| ENST00000674815.1:c.-108C>G | ENSP00000502799.1:n.-108C>G | |
| ENST00000674851.1:c.-108C>G | ENSP00000502451.1:n.-108C>G | |
| ENST00000674969.1:n.302C>G | ||
| ENST00000675025.1:n.178C>G | ||
| ENST00000675051.1:c.61C>G | ENSP00000502296.1:p.Gln21Glu | |
| ENST00000675529.1:c.*132C>G | ENSP00000501655.1:n.*132C>G | |
| ENST00000675587.1:n.278C>G | ||
| ENST00000675651.1:c.262C>G | ENSP00000502513.1:p.Gln88Glu | |
| ENST00000675693.1:c.94C>G | ENSP00000502174.1:p.Gln32Glu | |
| ENST00000675810.1:c.223-1112C>G | ENSP00000502743.1:n.223-1112C>G | |
| ENST00000675859.1:c.262C>G | ENSP00000502033.1:p.Gln88Glu | |
| ENST00000675863.1:n.270C>G | ||
| ENST00000675886.1:n.290C>G | ||
| ENST00000676088.1:c.*132C>G | ENSP00000501884.1:n.*132C>G | |
| ENST00000676140.1:c.262C>G | ENSP00000502571.1:p.Gln88Glu | |
| ENST00000676164.1:c.262C>G | ENSP00000501986.1:p.Gln88Glu | |
| ENST00000676210.1:c.262C>G | ENSP00000502373.1:p.Gln88Glu | |
| ENST00000676259.1:c.262C>G | ENSP00000501980.1:p.Gln88Glu | |
| ENST00000676403.1:c.262C>G | ENSP00000502681.1:p.Gln88Glu | |
| ENST00000389266.7:c.262C>G | ENSP00000373918.3:p.Gln88Glu | |
| ENST00000454308.5:c.*132C>G | ENSP00000392677.1:n.*132C>G | |
| ENST00000478124.5:n.300C>G | ||
| NM_001316772.1:c.100C>G | NP_001303701.1:p.Gln34Glu | |
| NM_002047.2:c.262C>G , LRG_243t1:c.262C>G | NP_002038.2:p.Gln88Glu | |
| NM_002047.3:c.262C>G | NP_002038.2:p.Gln88Glu | |
| XM_006715686.1:c.-108C>G | XP_006715749.1:n.-108C>G | |
| XM_006715686.2:c.-108C>G | XP_006715749.1:n.-108C>G | |
| NM_002047.4:c.262C>G MANE Select | NP_002038.2:p.Gln88Glu |