Linked Data
ClinVar Variation Id:
498005
dbSNP Id:
rs376143828
ExAC:
2:179486224 G / A
gnomAD v2:
2-179486224-G-A
gnomAD v3:
2-178621497-G-A
gnomAD v4:
2-178621497-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178621497G>A , CM000664.2:g.178621497G>A | GRCh38 |
| NC_000002.11:g.179486224G>A , CM000664.1:g.179486224G>A | GRCh37 |
| NC_000002.10:g.179194469G>A | NCBI36 |
| NG_011618.3:g.214306C>T , LRG_391:g.214306C>T | |
| NG_051363.1:g.103671G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37623C>T | ENSP00000343764.6:p.Thr12541= | |
| ENST00000342175.11:c.18708C>T | ENSP00000340554.6:p.Thr6236= | |
| ENST00000359218.10:c.18507C>T | ENSP00000352154.5:p.Thr6169= | |
| ENST00000342175.10:c.18708C>T | ENSP00000340554.6:p.Thr6236= | |
| ENST00000342992.10:c.37623C>T | ENSP00000343764.6:p.Thr12541= | |
| ENST00000359218.9:c.18507C>T | ENSP00000352154.5:p.Thr6169= | |
| ENST00000460472.6:c.18132C>T | ENSP00000434586.1:p.Thr6044= | |
| ENST00000589042.5:c.45327C>T MANE Select | ENSP00000467141.1:p.Thr15109= | |
| ENST00000591111.5:c.40404C>T | ENSP00000465570.1:p.Thr13468= | |
| ENST00000615779.4:c.40404C>T | ENSP00000483597.1:p.Thr13468= | |
| NM_001256850.1:c.40404C>T | NP_001243779.1:p.Thr13468= | |
| NM_001267550.2:c.45327C>T MANE Select | NP_001254479.2:p.Thr15109= | |
| NM_003319.4:c.18132C>T | NP_003310.4:p.Thr6044= | |
| NM_133378.4:c.37623C>T | NP_596869.4:p.Thr12541= | |
| NM_133432.3:c.18507C>T | NP_597676.3:p.Thr6169= | |
| NM_133437.4:c.18708C>T | NP_597681.4:p.Thr6236= | |
| XM_011511729.1:c.44424C>T | XP_011510031.1:p.Thr14808= | |
| XM_011511730.1:c.18318C>T | XP_011510032.1:p.Thr6106= | |
| XM_011511731.1:c.18177C>T | XP_011510033.1:p.Thr6059= | |
| XM_017004819.1:c.44220C>T | XP_016860308.1:p.Thr14740= | |
| XM_017004820.1:c.39618C>T | XP_016860309.1:p.Thr13206= | |
| XM_017004821.1:c.39615C>T | XP_016860310.1:p.Thr13205= | |
| XM_017004822.1:c.36657C>T | XP_016860311.1:p.Thr12219= | |
| XM_017004823.1:c.18273C>T | XP_016860312.1:p.Thr6091= | |
| XM_024453094.1:c.39768C>T | XP_024308862.1:p.Thr13256= | |
| XM_024453095.1:c.39765C>T | XP_024308863.1:p.Thr13255= | |
| XM_024453096.1:c.39198C>T | XP_024308864.1:p.Thr13066= | |
| XM_024453097.1:c.36540C>T | XP_024308865.1:p.Thr12180= | |
| XM_024453098.1:c.36459C>T | XP_024308866.1:p.Thr12153= | |
| XM_024453099.1:c.18222C>T | XP_024308867.1:p.Thr6074= | |
| XM_024453100.1:c.8076C>T | XP_024308868.1:p.Thr2692= |