Linked Data
ClinVar Variation Id:
188197
dbSNP Id:
rs369466037
ExAC:
7:30638425 G / A
gnomAD v2:
7-30638425-G-A
gnomAD v3:
7-30598809-G-A
gnomAD v4:
7-30598809-G-A
COSMIC:
COSM3880552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30598809G>A , CM000669.2:g.30598809G>A | GRCh38 |
| NC_000007.13:g.30638425G>A , CM000669.1:g.30638425G>A | GRCh37 |
| NC_000007.12:g.30604950G>A | NCBI36 |
| NG_007942.1:g.9245G>A , LRG_243:g.9245G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.236G>A MANE Select | ENSP00000373918.3:p.Arg79Gln | |
| ENST00000444666.6:c.236G>A | ENSP00000415447.2:p.Arg79Gln | |
| ENST00000454308.6:c.236G>A | ENSP00000392677.2:p.Arg79Gln | |
| ENST00000470392.2:n.326G>A | ||
| ENST00000478124.6:n.299G>A | ||
| ENST00000485784.2:n.315G>A | ||
| ENST00000674616.1:c.236G>A | ENSP00000502408.1:p.Arg79Gln | |
| ENST00000674643.1:c.236G>A | ENSP00000501636.1:p.Arg79Gln | |
| ENST00000674737.1:c.236G>A | ENSP00000502464.1:p.Arg79Gln | |
| ENST00000674807.1:c.236G>A | ENSP00000502814.1:p.Arg79Gln | |
| ENST00000674815.1:c.-134G>A | ENSP00000502799.1:n.-134G>A | |
| ENST00000674851.1:c.-134G>A | ENSP00000502451.1:n.-134G>A | |
| ENST00000674969.1:n.276G>A | ||
| ENST00000675025.1:n.152G>A | ||
| ENST00000675051.1:c.35G>A | ENSP00000502296.1:p.Arg12Gln | |
| ENST00000675529.1:c.*106G>A | ENSP00000501655.1:n.*106G>A | |
| ENST00000675587.1:n.252G>A | ||
| ENST00000675651.1:c.236G>A | ENSP00000502513.1:p.Arg79Gln | |
| ENST00000675693.1:c.68G>A | ENSP00000502174.1:p.Arg23Gln | |
| ENST00000675810.1:c.223-1138G>A | ENSP00000502743.1:n.223-1138G>A | |
| ENST00000675859.1:c.236G>A | ENSP00000502033.1:p.Arg79Gln | |
| ENST00000675863.1:n.244G>A | ||
| ENST00000675886.1:n.264G>A | ||
| ENST00000676088.1:c.*106G>A | ENSP00000501884.1:n.*106G>A | |
| ENST00000676140.1:c.236G>A | ENSP00000502571.1:p.Arg79Gln | |
| ENST00000676164.1:c.236G>A | ENSP00000501986.1:p.Arg79Gln | |
| ENST00000676210.1:c.236G>A | ENSP00000502373.1:p.Arg79Gln | |
| ENST00000676259.1:c.236G>A | ENSP00000501980.1:p.Arg79Gln | |
| ENST00000676403.1:c.236G>A | ENSP00000502681.1:p.Arg79Gln | |
| ENST00000389266.7:c.236G>A | ENSP00000373918.3:p.Arg79Gln | |
| ENST00000454308.5:c.*106G>A | ENSP00000392677.1:n.*106G>A | |
| ENST00000478124.5:n.274G>A | ||
| NM_001316772.1:c.74G>A | NP_001303701.1:p.Arg25Gln | |
| NM_002047.2:c.236G>A , LRG_243t1:c.236G>A | NP_002038.2:p.Arg79Gln | |
| NM_002047.3:c.236G>A | NP_002038.2:p.Arg79Gln | |
| XM_006715686.1:c.-134G>A | XP_006715749.1:n.-134G>A | |
| XM_006715686.2:c.-134G>A | XP_006715749.1:n.-134G>A | |
| NM_002047.4:c.236G>A MANE Select | NP_002038.2:p.Arg79Gln |