Linked Data
ClinVar Variation Id:
229437
ClinVar RCV Id:
RCV000216762
RCV000284481
RCV000380150
RCV000286745
RCV000341707
RCV000401971
RCV000534179
RCV001722171
RCV001798708
dbSNP Id:
rs543102139
ExAC:
2:179489414 C / T
gnomAD v2:
2-179489414-C-T
gnomAD v3:
2-178624687-C-T
gnomAD v4:
2-178624687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178624687C>T , CM000664.2:g.178624687C>T | GRCh38 |
| NC_000002.11:g.179489414C>T , CM000664.1:g.179489414C>T | GRCh37 |
| NC_000002.10:g.179197659C>T | NCBI36 |
| NG_011618.3:g.211116G>A , LRG_391:g.211116G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36889G>A | ENSP00000343764.6:p.Glu12297Lys | |
| ENST00000342175.11:c.17974G>A | ENSP00000340554.6:p.Glu5992Lys | |
| ENST00000359218.10:c.17773G>A | ENSP00000352154.5:p.Glu5925Lys | |
| ENST00000342175.10:c.17974G>A | ENSP00000340554.6:p.Glu5992Lys | |
| ENST00000342992.10:c.36889G>A | ENSP00000343764.6:p.Glu12297Lys | |
| ENST00000359218.9:c.17773G>A | ENSP00000352154.5:p.Glu5925Lys | |
| ENST00000460472.6:c.17398G>A | ENSP00000434586.1:p.Glu5800Lys | |
| ENST00000589042.5:c.44593G>A MANE Select | ENSP00000467141.1:p.Glu14865Lys | |
| ENST00000591111.5:c.39670G>A | ENSP00000465570.1:p.Glu13224Lys | |
| ENST00000615779.4:c.39670G>A | ENSP00000483597.1:p.Glu13224Lys | |
| NM_001256850.1:c.39670G>A | NP_001243779.1:p.Glu13224Lys | |
| NM_001267550.2:c.44593G>A MANE Select | NP_001254479.2:p.Glu14865Lys | |
| NM_003319.4:c.17398G>A | NP_003310.4:p.Glu5800Lys | |
| NM_133378.4:c.36889G>A | NP_596869.4:p.Glu12297Lys | |
| NM_133432.3:c.17773G>A | NP_597676.3:p.Glu5925Lys | |
| NM_133437.4:c.17974G>A | NP_597681.4:p.Glu5992Lys | |
| XM_011511729.1:c.43690G>A | XP_011510031.1:p.Glu14564Lys | |
| XM_011511730.1:c.17584G>A | XP_011510032.1:p.Glu5862Lys | |
| XM_011511731.1:c.17443G>A | XP_011510033.1:p.Glu5815Lys | |
| XM_017004819.1:c.43486G>A | XP_016860308.1:p.Glu14496Lys | |
| XM_017004820.1:c.38884G>A | XP_016860309.1:p.Glu12962Lys | |
| XM_017004821.1:c.38881G>A | XP_016860310.1:p.Glu12961Lys | |
| XM_017004822.1:c.35923G>A | XP_016860311.1:p.Glu11975Lys | |
| XM_017004823.1:c.17539G>A | XP_016860312.1:p.Glu5847Lys | |
| XM_024453094.1:c.39034G>A | XP_024308862.1:p.Glu13012Lys | |
| XM_024453095.1:c.39031G>A | XP_024308863.1:p.Glu13011Lys | |
| XM_024453096.1:c.38464G>A | XP_024308864.1:p.Glu12822Lys | |
| XM_024453097.1:c.35806G>A | XP_024308865.1:p.Glu11936Lys | |
| XM_024453098.1:c.35725G>A | XP_024308866.1:p.Glu11909Lys | |
| XM_024453099.1:c.17488G>A | XP_024308867.1:p.Glu5830Lys | |
| XM_024453100.1:c.7342G>A | XP_024308868.1:p.Glu2448Lys |