Linked Data
ClinVar Variation Id:
2060748
ClinVar RCV Id:
RCV002947960
dbSNP Id:
rs901252669
gnomAD v3:
14-87976386-C-T
gnomAD v4:
14-87976386-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87976386C>T , CM000676.2:g.87976386C>T | GRCh38 |
| NC_000014.8:g.88442730C>T , CM000676.1:g.88442730C>T | GRCh37 |
| NC_000014.7:g.87512483C>T | NCBI36 |
| NG_011853.2:g.22178G>A | |
| NG_011853.3:g.22178G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.724G>A MANE Select | ENSP00000261304.2:p.Glu242Lys | |
| ENST00000261304.6:c.724G>A | ENSP00000261304.2:p.Glu242Lys | |
| ENST00000393568.8:c.655G>A | ENSP00000377198.4:p.Glu219Lys | |
| ENST00000393569.6:c.646G>A | ENSP00000377199.2:p.Glu216Lys | |
| ENST00000474294.6:n.714G>A | ||
| ENST00000477716.3:n.479G>A | ||
| ENST00000544807.6:c.556G>A | ENSP00000437513.2:p.Glu186Lys | |
| ENST00000554916.5:n.603G>A | ||
| ENST00000555000.5:c.91G>A | ENSP00000450472.1:p.Glu31Lys | |
| ENST00000557316.5:c.*122G>A | ENSP00000452314.1:n.*122G>A | |
| ENST00000622264.4:c.714G>A | ||
| NM_000153.3:c.724G>A | NP_000144.2:p.Glu242Lys | |
| NM_001201401.1:c.655G>A | NP_001188330.1:p.Glu219Lys | |
| NM_001201402.1:c.646G>A | NP_001188331.1:p.Glu216Lys | |
| XM_011536618.1:c.556G>A | XP_011534920.1:p.Glu186Lys | |
| XM_011536618.2:c.556G>A | XP_011534920.1:p.Glu186Lys | |
| NM_000153.4:c.724G>A MANE Select | NP_000144.2:p.Glu242Lys | |
| NM_001201401.2:c.655G>A | NP_001188330.1:p.Glu219Lys | |
| NM_001201402.2:c.646G>A | NP_001188331.1:p.Glu216Lys |