Linked Data
ClinVar Variation Id:
211502
dbSNP Id:
rs111315726
ExAC:
17:56283880 C / T
gnomAD v2:
17-56283880-C-T
gnomAD v3:
17-58206519-C-T
gnomAD v4:
17-58206519-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58206519C>T , CM000679.2:g.58206519C>T | GRCh38 |
| NC_000017.10:g.56283880C>T , CM000679.1:g.56283880C>T | GRCh37 |
| NC_000017.9:g.53638879C>T | NCBI36 |
| NG_013020.1:g.18792C>T | |
| NG_013032.1:g.18087G>A , LRG_687:g.18087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.1274-139G>A | ENSP00000316631.6:n.1274-139G>A | |
| ENST00000393119.7:c.1436G>A MANE Select | ENSP00000376827.2:p.Arg479His | |
| ENST00000537529.7:c.1007G>A | ENSP00000442096.3:p.Arg336His | |
| ENST00000675753.2:c.*1055G>A | ENSP00000502156.1:n.*1055G>A | |
| ENST00000676787.1:c.1307G>A | ENSP00000503999.1:p.Arg436His | |
| ENST00000677111.1:c.*910G>A | ENSP00000504282.1:n.*910G>A | |
| ENST00000677160.1:n.2710G>A | ||
| ENST00000677416.1:n.2673G>A | ||
| ENST00000677486.1:c.*780G>A | ENSP00000503852.1:n.*780G>A | |
| ENST00000677709.1:n.2136G>A | ||
| ENST00000678011.1:n.2336G>A | ||
| ENST00000678432.1:c.*1210G>A | ENSP00000504452.1:n.*1210G>A | |
| ENST00000678463.1:c.1408-139G>A | ENSP00000502984.1:n.1408-139G>A | |
| ENST00000678568.1:c.*815-139G>A | ENSP00000504754.1:n.*815-139G>A | |
| ENST00000678641.1:c.*780G>A | ENSP00000503159.1:n.*780G>A | |
| ENST00000678763.1:n.1751G>A | ||
| ENST00000313863.10:c.1274-139G>A | ENSP00000316631.6:n.1274-139G>A | |
| ENST00000393119.6:c.1436G>A | ENSP00000376827.2:p.Arg479His | |
| ENST00000393120.6:c.*843G>A | ENSP00000376828.2:n.*843G>A | |
| ENST00000537529.6:c.1406G>A | ENSP00000442096.2:p.Arg469His | |
| ENST00000583577.1:n.262G>A | ||
| NM_001165927.1:c.1406G>A , LRG_687t2:c.1406G>A | NP_001159399.1:p.Arg469His | |
| NM_017777.3:c.1436G>A , LRG_687t1:c.1436G>A | NP_060247.2:p.Arg479His | |
| XM_005257483.3:c.1408-139G>A | XP_005257540.1:n.1408-139G>A | |
| XM_005257485.3:c.979-139G>A | XP_005257542.1:n.979-139G>A | |
| XM_005257486.3:c.827G>A | XP_005257543.1:p.Arg276His | |
| XM_006721965.2:c.799-139G>A | XP_006722028.1:n.799-139G>A | |
| XM_011524957.1:c.1417-139G>A | XP_011523259.1:n.1417-139G>A | |
| XM_011524958.1:c.1445G>A | XP_011523260.1:p.Arg482His | |
| XM_011524959.1:c.1283-139G>A | XP_011523261.1:n.1283-139G>A | |
| NM_001321268.1:c.827G>A | NP_001308197.1:p.Arg276His | |
| NM_001321269.1:c.1408-139G>A | NP_001308198.1:n.1408-139G>A | |
| NM_001330397.1:c.1274-139G>A | NP_001317326.1:n.1274-139G>A | |
| XM_005257485.4:c.979-139G>A | XP_005257542.1:n.979-139G>A | |
| XM_006721965.3:c.799-139G>A | XP_006722028.1:n.799-139G>A | |
| XM_011524957.2:c.1417-139G>A | XP_011523259.1:n.1417-139G>A | |
| XM_011524958.2:c.1445G>A | XP_011523260.1:p.Arg482His | |
| XM_011524959.2:c.1283-139G>A | XP_011523261.1:n.1283-139G>A | |
| XM_017024805.1:c.1007G>A | XP_016880294.1:p.Arg336His | |
| XR_002958042.1:n.1419-139G>A | ||
| NM_001321268.2:c.827G>A | NP_001308197.1:p.Arg276His | |
| NM_001321269.2:c.1408-139G>A | NP_001308198.1:n.1408-139G>A | |
| NM_001330397.2:c.1274-139G>A | NP_001317326.1:n.1274-139G>A | |
| NM_017777.4:c.1436G>A MANE Select | NP_060247.2:p.Arg479His |