Linked Data
dbSNP Id:
rs754365384
ExAC:
1:120269492 G / C
gnomAD v2:
1-120269492-G-C
gnomAD v4:
1-119726869-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119726869G>C , CM000663.2:g.119726869G>C | GRCh38 |
| NC_000001.10:g.120269492G>C , CM000663.1:g.120269492G>C | GRCh37 |
| NC_000001.9:g.120071015G>C | NCBI36 |
| NG_009188.1:g.20074G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.375G>C | ENSP00000358417.5:p.Thr125= | |
| ENST00000462324.2:n.458G>C | ||
| ENST00000641023.2:c.375G>C MANE Select | ENSP00000493175.1:p.Thr125= | |
| ENST00000641074.1:c.375G>C | ENSP00000493446.1:p.Thr125= | |
| ENST00000641115.1:c.375G>C | ENSP00000493264.1:p.Thr125= | |
| ENST00000641213.1:c.*28G>C | ENSP00000493079.1:n.*28G>C | |
| ENST00000641247.1:c.*94G>C | ENSP00000492955.1:n.*94G>C | |
| ENST00000641272.1:c.309G>C | ENSP00000493432.1:p.Thr103= | |
| ENST00000641314.1:n.360G>C | ||
| ENST00000641371.1:c.289G>C | ENSP00000493305.1:p.Gly97Arg | |
| ENST00000641375.1:c.*211G>C | ENSP00000493089.1:n.*211G>C | |
| ENST00000641491.1:c.*28G>C | ENSP00000493187.1:n.*28G>C | |
| ENST00000641513.1:c.*119G>C | ENSP00000493398.1:n.*119G>C | |
| ENST00000641570.1:c.*94G>C | ENSP00000493213.1:n.*94G>C | |
| ENST00000641573.1:n.463G>C | ||
| ENST00000641587.1:c.*86G>C | ENSP00000493453.1:n.*86G>C | |
| ENST00000641597.1:c.375G>C | ENSP00000493382.1:p.Thr125= | |
| ENST00000641711.1:n.599G>C | ||
| ENST00000641756.1:c.*119G>C | ENSP00000493147.1:n.*119G>C | |
| ENST00000641811.1:c.131G>C | ||
| ENST00000641847.1:n.234G>C | ||
| ENST00000641891.1:c.*201G>C | ENSP00000493288.1:n.*201G>C | |
| ENST00000641927.1:n.315G>C | ||
| ENST00000641947.1:c.375G>C | ENSP00000492994.1:p.Thr125= | |
| ENST00000642021.1:n.497G>C | ||
| ENST00000642041.1:c.*414G>C | ENSP00000493415.1:n.*414G>C | |
| ENST00000369407.3:c.273G>C | ENSP00000358415.3:p.Thr91= | |
| ENST00000369409.8:c.375G>C | ENSP00000358417.4:p.Thr125= | |
| ENST00000462324.1:n.643G>C | ||
| ENST00000493622.5:n.564G>C | ||
| NM_006623.3:c.375G>C | NP_006614.2:p.Thr125= | |
| XM_011541226.1:c.597G>C | XP_011539528.1:p.Thr199= | |
| XM_011541227.1:c.519G>C | XP_011539529.1:p.Thr173= | |
| XM_011541228.1:c.486G>C | XP_011539530.1:p.Thr162= | |
| XM_011541229.1:c.312G>C | XP_011539531.1:p.Thr104= | |
| XM_011541230.1:c.90G>C | XP_011539532.1:p.Thr30= | |
| XM_011541231.1:c.81G>C | XP_011539533.1:p.Thr27= | |
| XM_011541226.2:c.597G>C | XP_011539528.1:p.Thr199= | |
| XM_011541227.2:c.519G>C | XP_011539529.1:p.Thr173= | |
| XM_011541228.2:c.486G>C | XP_011539530.1:p.Thr162= | |
| XM_011541231.2:c.81G>C | XP_011539533.1:p.Thr27= | |
| XM_024446338.1:c.486G>C | XP_024302106.1:p.Thr162= | |
| NM_006623.4:c.375G>C MANE Select | NP_006614.2:p.Thr125= |