Linked Data
ClinVar Variation Id:
299494
dbSNP Id:
rs150014503
ExAC:
10:17107530 T / C
gnomAD v2:
10-17107530-T-C
gnomAD v3:
10-17065531-T-C
gnomAD v4:
10-17065531-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17065531T>C , CM000672.2:g.17065531T>C | GRCh38 |
| NC_000010.10:g.17107530T>C , CM000672.1:g.17107530T>C | GRCh37 |
| NC_000010.9:g.17147536T>C | NCBI36 |
| NG_008967.1:g.69287A>G , LRG_540:g.69287A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.3116A>G MANE Select | ENSP00000367064.4:p.Tyr1039Cys | |
| ENST00000377833.8:c.3116A>G | ENSP00000367064.4:p.Tyr1039Cys | |
| NM_001081.3:c.3116A>G , LRG_540t1:c.3116A>G | NP_001072.2:p.Tyr1039Cys | |
| XM_011519708.1:c.3116A>G | XP_011518010.1:p.Tyr1039Cys | |
| XM_011519708.2:c.3116A>G | XP_011518010.1:p.Tyr1039Cys | |
| NM_001081.4:c.3116A>G MANE Select | NP_001072.2:p.Tyr1039Cys |