Linked Data
ClinVar Variation Id:
664070
dbSNP Id:
rs202203339
gnomAD v2:
1-17354261-C-T
gnomAD v4:
1-17027766-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027766C>T , CM000663.2:g.17027766C>T | GRCh38 |
| NC_000001.10:g.17354261C>T , CM000663.1:g.17354261C>T | GRCh37 |
| NC_000001.9:g.17226848C>T | NCBI36 |
| NG_012340.1:g.31405G>A , LRG_316:g.31405G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.352G>A | ENSP00000481376.2:p.Glu118Lys | |
| ENST00000491274.6:c.481G>A | ENSP00000480482.2:p.Glu161Lys | |
| ENST00000375499.8:c.523G>A MANE Select | ENSP00000364649.3:p.Glu175Lys | |
| ENST00000375499.7:c.523G>A | ENSP00000364649.3:p.Glu175Lys | |
| ENST00000463045.2:c.352G>A | ENSP00000481376.1:p.Glu118Lys | |
| ENST00000475506.1:n.440G>A | ||
| ENST00000485515.5:n.457G>A | ||
| ENST00000491274.5:c.481G>A | ENSP00000480482.1:p.Glu161Lys | |
| NM_003000.2:c.523G>A , LRG_316t1:c.523G>A | NP_002991.2:p.Glu175Lys | |
| NM_003000.3:c.523G>A MANE Select | NP_002991.2:p.Glu175Lys |