Linked Data
ClinVar Variation Id:
385077
dbSNP Id:
rs200279483
ExAC:
7:30639646 A / G
gnomAD v2:
7-30639646-A-G
gnomAD v3:
7-30600030-A-G
gnomAD v4:
7-30600030-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30600030A>G , CM000669.2:g.30600030A>G | GRCh38 |
| NC_000007.13:g.30639646A>G , CM000669.1:g.30639646A>G | GRCh37 |
| NC_000007.12:g.30606171A>G | NCBI36 |
| NG_007942.1:g.10466A>G , LRG_243:g.10466A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.408A>G MANE Select | ENSP00000373918.3:p.Gln136= | |
| ENST00000444666.6:c.408A>G | ENSP00000415447.2:p.Gln136= | |
| ENST00000454308.6:c.408A>G | ENSP00000392677.2:p.Gln136= | |
| ENST00000470392.2:n.498A>G | ||
| ENST00000478124.6:n.471A>G | ||
| ENST00000485784.2:n.487A>G | ||
| ENST00000674616.1:c.*122A>G | ENSP00000502408.1:n.*122A>G | |
| ENST00000674643.1:c.408A>G | ENSP00000501636.1:p.Gln136= | |
| ENST00000674737.1:c.408A>G | ENSP00000502464.1:p.Gln136= | |
| ENST00000674807.1:c.408A>G | ENSP00000502814.1:p.Gln136= | |
| ENST00000674815.1:c.39A>G | ENSP00000502799.1:p.Gln13= | |
| ENST00000674851.1:c.39A>G | ENSP00000502451.1:p.Gln13= | |
| ENST00000674969.1:n.448A>G | ||
| ENST00000675025.1:n.324A>G | ||
| ENST00000675051.1:c.207A>G | ENSP00000502296.1:p.Gln69= | |
| ENST00000675529.1:c.*278A>G | ENSP00000501655.1:n.*278A>G | |
| ENST00000675587.1:n.424A>G | ||
| ENST00000675651.1:c.408A>G | ENSP00000502513.1:p.Gln136= | |
| ENST00000675693.1:c.240A>G | ENSP00000502174.1:p.Gln80= | |
| ENST00000675810.1:c.306A>G | ENSP00000502743.1:p.Gln102= | |
| ENST00000675859.1:c.408A>G | ENSP00000502033.1:p.Gln136= | |
| ENST00000675863.1:n.416A>G | ||
| ENST00000675886.1:n.436A>G | ||
| ENST00000676088.1:c.*278A>G | ENSP00000501884.1:n.*278A>G | |
| ENST00000676140.1:c.408A>G | ENSP00000502571.1:p.Gln136= | |
| ENST00000676164.1:c.408A>G | ENSP00000501986.1:p.Gln136= | |
| ENST00000676210.1:c.408A>G | ENSP00000502373.1:p.Gln136= | |
| ENST00000676259.1:c.408A>G | ENSP00000501980.1:p.Gln136= | |
| ENST00000676403.1:c.408A>G | ENSP00000502681.1:p.Gln136= | |
| ENST00000389266.7:c.408A>G | ENSP00000373918.3:p.Gln136= | |
| ENST00000454308.5:c.*278A>G | ENSP00000392677.1:n.*278A>G | |
| ENST00000478124.5:n.446A>G | ||
| NM_001316772.1:c.246A>G | NP_001303701.1:p.Gln82= | |
| NM_002047.2:c.408A>G , LRG_243t1:c.408A>G | NP_002038.2:p.Gln136= | |
| NM_002047.3:c.408A>G | NP_002038.2:p.Gln136= | |
| XM_006715686.1:c.39A>G | XP_006715749.1:p.Gln13= | |
| XM_006715686.2:c.39A>G | XP_006715749.1:p.Gln13= | |
| NM_002047.4:c.408A>G MANE Select | NP_002038.2:p.Gln136= |