Linked Data
ClinVar Variation Id:
180568
dbSNP Id:
rs730880239
ExAC:
2:179485026 C / T
gnomAD v2:
2-179485026-C-T
gnomAD v3:
2-178620299-C-T
gnomAD v4:
2-178620299-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178620299C>T , CM000664.2:g.178620299C>T | GRCh38 |
| NC_000002.11:g.179485026C>T , CM000664.1:g.179485026C>T | GRCh37 |
| NC_000002.10:g.179193271C>T | NCBI36 |
| NG_011618.3:g.215504G>A , LRG_391:g.215504G>A | |
| NG_051363.1:g.102473C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.38518G>A | ENSP00000343764.6:p.Ala12840Thr | |
| ENST00000342175.11:c.19603G>A | ENSP00000340554.6:p.Ala6535Thr | |
| ENST00000359218.10:c.19402G>A | ENSP00000352154.5:p.Ala6468Thr | |
| ENST00000342175.10:c.19603G>A | ENSP00000340554.6:p.Ala6535Thr | |
| ENST00000342992.10:c.38518G>A | ENSP00000343764.6:p.Ala12840Thr | |
| ENST00000359218.9:c.19402G>A | ENSP00000352154.5:p.Ala6468Thr | |
| ENST00000460472.6:c.19027G>A | ENSP00000434586.1:p.Ala6343Thr | |
| ENST00000589042.5:c.46222G>A MANE Select | ENSP00000467141.1:p.Ala15408Thr | |
| ENST00000591111.5:c.41299G>A | ENSP00000465570.1:p.Ala13767Thr | |
| ENST00000615779.4:c.41299G>A | ENSP00000483597.1:p.Ala13767Thr | |
| NM_001256850.1:c.41299G>A | NP_001243779.1:p.Ala13767Thr | |
| NM_001267550.2:c.46222G>A MANE Select | NP_001254479.2:p.Ala15408Thr | |
| NM_003319.4:c.19027G>A | NP_003310.4:p.Ala6343Thr | |
| NM_133378.4:c.38518G>A | NP_596869.4:p.Ala12840Thr | |
| NM_133432.3:c.19402G>A | NP_597676.3:p.Ala6468Thr | |
| NM_133437.4:c.19603G>A | NP_597681.4:p.Ala6535Thr | |
| XM_011511729.1:c.45319G>A | XP_011510031.1:p.Ala15107Thr | |
| XM_011511730.1:c.19213G>A | XP_011510032.1:p.Ala6405Thr | |
| XM_011511731.1:c.19072G>A | XP_011510033.1:p.Ala6358Thr | |
| XM_017004819.1:c.45115G>A | XP_016860308.1:p.Ala15039Thr | |
| XM_017004820.1:c.40513G>A | XP_016860309.1:p.Ala13505Thr | |
| XM_017004821.1:c.40510G>A | XP_016860310.1:p.Ala13504Thr | |
| XM_017004822.1:c.37552G>A | XP_016860311.1:p.Ala12518Thr | |
| XM_017004823.1:c.19168G>A | XP_016860312.1:p.Ala6390Thr | |
| XM_024453094.1:c.40663G>A | XP_024308862.1:p.Ala13555Thr | |
| XM_024453095.1:c.40660G>A | XP_024308863.1:p.Ala13554Thr | |
| XM_024453096.1:c.40093G>A | XP_024308864.1:p.Ala13365Thr | |
| XM_024453097.1:c.37435G>A | XP_024308865.1:p.Ala12479Thr | |
| XM_024453098.1:c.37354G>A | XP_024308866.1:p.Ala12452Thr | |
| XM_024453099.1:c.19117G>A | XP_024308867.1:p.Ala6373Thr | |
| XM_024453100.1:c.8971G>A | XP_024308868.1:p.Ala2991Thr |