Linked Data
ClinVar Variation Id:
332866
ClinVar RCV Id:
RCV000312228
RCV000356404
RCV000299213
RCV000392377
RCV000405513
RCV000770037
RCV002510872
RCV001466259
RCV004530331
dbSNP Id:
rs755769210
ExAC:
2:179489316 C / T
gnomAD v2:
2-179489316-C-T
gnomAD v3:
2-178624589-C-T
gnomAD v4:
2-178624589-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178624589C>T , CM000664.2:g.178624589C>T | GRCh38 |
| NC_000002.11:g.179489316C>T , CM000664.1:g.179489316C>T | GRCh37 |
| NC_000002.10:g.179197561C>T | NCBI36 |
| NG_011618.3:g.211214G>A , LRG_391:g.211214G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36987G>A | ENSP00000343764.6:p.Lys12329= | |
| ENST00000342175.11:c.18072G>A | ENSP00000340554.6:p.Lys6024= | |
| ENST00000359218.10:c.17871G>A | ENSP00000352154.5:p.Lys5957= | |
| ENST00000342175.10:c.18072G>A | ENSP00000340554.6:p.Lys6024= | |
| ENST00000342992.10:c.36987G>A | ENSP00000343764.6:p.Lys12329= | |
| ENST00000359218.9:c.17871G>A | ENSP00000352154.5:p.Lys5957= | |
| ENST00000460472.6:c.17496G>A | ENSP00000434586.1:p.Lys5832= | |
| ENST00000589042.5:c.44691G>A MANE Select | ENSP00000467141.1:p.Lys14897= | |
| ENST00000591111.5:c.39768G>A | ENSP00000465570.1:p.Lys13256= | |
| ENST00000615779.4:c.39768G>A | ENSP00000483597.1:p.Lys13256= | |
| NM_001256850.1:c.39768G>A | NP_001243779.1:p.Lys13256= | |
| NM_001267550.2:c.44691G>A MANE Select | NP_001254479.2:p.Lys14897= | |
| NM_003319.4:c.17496G>A | NP_003310.4:p.Lys5832= | |
| NM_133378.4:c.36987G>A | NP_596869.4:p.Lys12329= | |
| NM_133432.3:c.17871G>A | NP_597676.3:p.Lys5957= | |
| NM_133437.4:c.18072G>A | NP_597681.4:p.Lys6024= | |
| XM_011511729.1:c.43788G>A | XP_011510031.1:p.Lys14596= | |
| XM_011511730.1:c.17682G>A | XP_011510032.1:p.Lys5894= | |
| XM_011511731.1:c.17541G>A | XP_011510033.1:p.Lys5847= | |
| XM_017004819.1:c.43584G>A | XP_016860308.1:p.Lys14528= | |
| XM_017004820.1:c.38982G>A | XP_016860309.1:p.Lys12994= | |
| XM_017004821.1:c.38979G>A | XP_016860310.1:p.Lys12993= | |
| XM_017004822.1:c.36021G>A | XP_016860311.1:p.Lys12007= | |
| XM_017004823.1:c.17637G>A | XP_016860312.1:p.Lys5879= | |
| XM_024453094.1:c.39132G>A | XP_024308862.1:p.Lys13044= | |
| XM_024453095.1:c.39129G>A | XP_024308863.1:p.Lys13043= | |
| XM_024453096.1:c.38562G>A | XP_024308864.1:p.Lys12854= | |
| XM_024453097.1:c.35904G>A | XP_024308865.1:p.Lys11968= | |
| XM_024453098.1:c.35823G>A | XP_024308866.1:p.Lys11941= | |
| XM_024453099.1:c.17586G>A | XP_024308867.1:p.Lys5862= | |
| XM_024453100.1:c.7440G>A | XP_024308868.1:p.Lys2480= |