Linked Data
dbSNP Id:
rs1178614508
gnomAD v2:
1-120269710-G-T
gnomAD v3:
1-119727087-G-T
gnomAD v4:
1-119727087-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119727087G>T , CM000663.2:g.119727087G>T | GRCh38 |
| NC_000001.10:g.120269710G>T , CM000663.1:g.120269710G>T | GRCh37 |
| NC_000001.9:g.120071233G>T | NCBI36 |
| NG_009188.1:g.20292G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.495G>T | ENSP00000358417.5:p.Gln165His | |
| ENST00000462324.2:n.578G>T | ||
| ENST00000641023.2:c.495G>T MANE Select | ENSP00000493175.1:p.Gln165His | |
| ENST00000641074.1:c.495G>T | ENSP00000493446.1:p.Gln165His | |
| ENST00000641115.1:c.495G>T | ENSP00000493264.1:p.Gln165His | |
| ENST00000641213.1:c.*148G>T | ENSP00000493079.1:n.*148G>T | |
| ENST00000641247.1:c.*214G>T | ENSP00000492955.1:n.*214G>T | |
| ENST00000641272.1:c.429G>T | ENSP00000493432.1:p.Gln143His | |
| ENST00000641314.1:n.480G>T | ||
| ENST00000641371.1:c.409G>T | ENSP00000493305.1:p.Val137Phe | |
| ENST00000641375.1:c.*331G>T | ENSP00000493089.1:n.*331G>T | |
| ENST00000641455.1:n.40G>T | ||
| ENST00000641491.1:c.*148G>T | ENSP00000493187.1:n.*148G>T | |
| ENST00000641570.1:c.*214G>T | ENSP00000493213.1:n.*214G>T | |
| ENST00000641573.1:n.583G>T | ||
| ENST00000641587.1:c.*206G>T | ENSP00000493453.1:n.*206G>T | |
| ENST00000641597.1:c.495G>T | ENSP00000493382.1:p.Gln165His | |
| ENST00000641756.1:c.*239G>T | ENSP00000493147.1:n.*239G>T | |
| ENST00000641811.1:c.251G>T | ||
| ENST00000641847.1:n.354G>T | ||
| ENST00000641891.1:c.*321G>T | ENSP00000493288.1:n.*321G>T | |
| ENST00000641927.1:n.435G>T | ||
| ENST00000641947.1:c.495G>T | ENSP00000492994.1:p.Gln165His | |
| ENST00000642021.1:n.617G>T | ||
| ENST00000369407.3:c.393G>T | ENSP00000358415.3:p.Gln131His | |
| ENST00000369409.8:c.495G>T | ENSP00000358417.4:p.Gln165His | |
| ENST00000462324.1:n.763G>T | ||
| ENST00000493622.5:n.684G>T | ||
| NM_006623.3:c.495G>T | NP_006614.2:p.Gln165His | |
| XM_011541226.1:c.717G>T | XP_011539528.1:p.Gln239His | |
| XM_011541227.1:c.639G>T | XP_011539529.1:p.Gln213His | |
| XM_011541228.1:c.606G>T | XP_011539530.1:p.Gln202His | |
| XM_011541229.1:c.432G>T | XP_011539531.1:p.Gln144His | |
| XM_011541230.1:c.210G>T | XP_011539532.1:p.Gln70His | |
| XM_011541231.1:c.201G>T | XP_011539533.1:p.Gln67His | |
| XM_011541226.2:c.717G>T | XP_011539528.1:p.Gln239His | |
| XM_011541227.2:c.639G>T | XP_011539529.1:p.Gln213His | |
| XM_011541228.2:c.606G>T | XP_011539530.1:p.Gln202His | |
| XM_011541231.2:c.201G>T | XP_011539533.1:p.Gln67His | |
| XM_024446338.1:c.606G>T | XP_024302106.1:p.Gln202His | |
| NM_006623.4:c.495G>T MANE Select | NP_006614.2:p.Gln165His |