Linked Data
ClinVar Variation Id:
35882
dbSNP Id:
rs113857788
ExAC:
7:117304834 G / T
gnomAD v2:
7-117304834-G-T
gnomAD v3:
7-117664780-G-T
gnomAD v4:
7-117664780-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117664780G>T , CM000669.2:g.117664780G>T | GRCh38 |
| NC_000007.13:g.117304834G>T , CM000669.1:g.117304834G>T | GRCh37 |
| NC_000007.12:g.117092070G>T | NCBI36 |
| NG_016465.4:g.203997G>T , LRG_663:g.203997G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*265G>T | ENSP00000497673.2:n.*265G>T | |
| ENST00000647978.2:c.*3770G>T | ENSP00000497658.1:n.*3770G>T | |
| ENST00000649781.2:c.3873G>T | ENSP00000497203.1:p.Gln1291His | |
| ENST00000685018.2:c.*269G>T | ENSP00000510194.2:n.*269G>T | |
| ENST00000687278.2:c.*709G>T | ENSP00000509593.2:n.*709G>T | |
| ENST00000699585.1:c.*265G>T | ENSP00000514456.1:n.*265G>T | |
| ENST00000699598.1:c.4056G>T | ENSP00000514467.1:p.Gln1352His | |
| ENST00000699599.1:c.*269G>T | ENSP00000514468.1:n.*269G>T | |
| ENST00000699600.1:c.*717G>T | ENSP00000514469.1:n.*717G>T | |
| ENST00000699601.1:c.*2431G>T | ENSP00000514470.1:n.*2431G>T | |
| ENST00000699602.1:c.4050G>T | ENSP00000514471.1:p.Gln1350His | |
| ENST00000699604.1:c.*3880G>T | ENSP00000514472.1:n.*3880G>T | |
| ENST00000699605.1:c.3630G>T | ENSP00000514473.1:p.Gln1210His | |
| ENST00000699606.1:n.2224G>T | ||
| ENST00000685018.1:c.920G>T | ENSP00000510194.1:n.920G>T | |
| ENST00000687278.1:c.1843G>T | ENSP00000509593.1:n.1843G>T | |
| ENST00000689011.1:c.638G>T | ||
| ENST00000003084.11:c.4056G>T MANE Select | ENSP00000003084.6:p.Gln1352His | |
| ENST00000647720.1:c.1506G>T | ||
| ENST00000649781.1:c.3873G>T | ENSP00000497203.1:p.Gln1291His | |
| ENST00000003084.10:c.4056G>T | ENSP00000003084.6:p.Gln1352His | |
| ENST00000426809.5:c.3966G>T | ENSP00000389119.1:p.Gln1322His | |
| ENST00000600166.1:c.182G>T | ||
| NM_000492.3:c.4056G>T , LRG_663t1:c.4056G>T | NP_000483.3:p.Gln1352His | |
| XM_011515751.1:c.4146G>T | XP_011514053.1:p.Gln1382His | |
| XM_011515752.1:c.4146G>T | XP_011514054.1:p.Gln1382His | |
| XM_011515753.1:c.3813G>T | XP_011514055.1:p.Gln1271His | |
| XM_011515754.1:c.3813G>T | XP_011514056.1:p.Gln1271His | |
| NM_000492.4:c.4056G>T MANE Select | NP_000483.3:p.Gln1352His |