Linked Data
ClinVar Variation Id:
239382
dbSNP Id:
rs200069356
ExAC:
17:66518940 G / A
gnomAD v2:
17-66518940-G-A
gnomAD v3:
17-68522799-G-A
gnomAD v4:
17-68522799-G-A
PubMed:
PMID:28051113
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68522799G>A , CM000679.2:g.68522799G>A | GRCh38 |
| NC_000017.10:g.66518940G>A , CM000679.1:g.66518940G>A | GRCh37 |
| NC_000017.9:g.64030535G>A | NCBI36 |
| NG_007093.3:g.114177G>A , LRG_514:g.114177G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588188.7:c.221G>A | ENSP00000468106.2:p.Arg74His | |
| ENST00000711037.1:c.221G>A | ENSP00000518555.1:p.Arg74His | |
| ENST00000585427.6:c.221G>A | ENSP00000464715.2:p.Arg74His | |
| ENST00000585981.6:c.221G>A | ENSP00000467311.2:p.Arg74His | |
| ENST00000588178.6:c.221G>A | ENSP00000465013.2:p.Arg74His | |
| ENST00000589017.6:c.221G>A | ENSP00000465445.2:p.Arg74His | |
| ENST00000589480.6:c.221G>A | ENSP00000466649.2:p.Arg74His | |
| ENST00000592800.6:c.221G>A | ENSP00000466314.2:p.Arg74His | |
| ENST00000686019.1:n.340G>A | ||
| ENST00000691392.1:n.354G>A | ||
| ENST00000589228.6:c.221G>A MANE Select | ENSP00000464977.2:p.Arg74His | |
| ENST00000358598.6:c.221G>A | ENSP00000351410.1:p.Arg74His | |
| ENST00000392710.8:c.211G>A | ENSP00000376474.4:p.Val71Ile | |
| ENST00000392711.5:c.221G>A | ENSP00000376475.1:p.Arg74His | |
| ENST00000536854.6:c.221G>A | ENSP00000445625.1:p.Arg74His | |
| ENST00000585427.5:c.221G>A | ENSP00000464715.1:p.Arg74His | |
| ENST00000585460.1:n.346G>A | ||
| ENST00000585608.5:c.221G>A | ENSP00000466722.1:p.Arg74His | |
| ENST00000585981.5:c.221G>A | ENSP00000467311.1:p.Arg74His | |
| ENST00000586397.5:c.221G>A | ENSP00000466459.1:p.Arg74His | |
| ENST00000588178.5:c.221G>A | ENSP00000465013.1:p.Arg74His | |
| ENST00000588188.6:c.221G>A | ENSP00000468106.2:p.Arg74His | |
| ENST00000588702.5:c.221G>A | ENSP00000464701.1:p.Arg74His | |
| ENST00000589017.5:c.221G>A | ENSP00000465445.1:p.Arg74His | |
| ENST00000589228.5:c.221G>A | ENSP00000464977.1:p.Arg74His | |
| ENST00000589480.5:c.221G>A | ENSP00000466649.1:p.Arg74His | |
| NM_001276289.1:c.221G>A | NP_001263218.1:p.Arg74His | |
| NM_001276290.1:c.221G>A | NP_001263219.1:p.Arg74His | |
| NM_001278433.1:c.221G>A | NP_001265362.1:p.Arg74His | |
| NM_002734.4:c.221G>A , LRG_514t1:c.221G>A | NP_002725.1:p.Arg74His | |
| NM_212471.2:c.221G>A | NP_997636.1:p.Arg74His | |
| NM_212472.2:c.221G>A , LRG_514t2:c.221G>A | NP_997637.1:p.Arg74His | |
| XM_011524983.1:c.221G>A | XP_011523285.1:p.Arg74His | |
| XM_011524984.1:c.221G>A | XP_011523286.1:p.Arg74His | |
| XM_011524985.1:c.221G>A | XP_011523287.1:p.Arg74His | |
| XM_011524983.3:c.221G>A | XP_011523285.1:p.Arg74His | |
| XM_011524984.3:c.221G>A | XP_011523286.1:p.Arg74His | |
| XM_011524985.3:c.221G>A | XP_011523287.1:p.Arg74His | |
| NM_001369389.1:c.221G>A | NP_001356318.1:p.Arg74His | |
| NM_001369390.1:c.221G>A | NP_001356319.1:p.Arg74His | |
| NM_002734.5:c.221G>A MANE Select | NP_002725.1:p.Arg74His | |
| NM_001276289.2:c.221G>A | NP_001263218.1:p.Arg74His | |
| NM_001278433.2:c.221G>A | NP_001265362.1:p.Arg74His | |
| NM_212471.3:c.221G>A | NP_997636.1:p.Arg74His |