Linked Data
ClinVar Variation Id:
129310
dbSNP Id:
rs146917406
ExAC:
15:65369947 G / A
gnomAD v2:
15-65369947-G-A
gnomAD v3:
15-65077609-G-A
gnomAD v4:
15-65077609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65077609G>A , CM000677.2:g.65077609G>A | GRCh38 |
| NC_000015.9:g.65369947G>A , CM000677.1:g.65369947G>A | GRCh37 |
| NC_000015.8:g.63157000G>A | NCBI36 |
| NG_021411.1:g.5794G>A , LRG_682:g.5794G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432196.5:c.794G>A MANE Select | ENSP00000388723.2:p.Gly265Asp | |
| ENST00000432196.3:c.794G>A | ENSP00000388723.2:p.Gly265Asp | |
| NM_001101362.2:c.794G>A , LRG_682t1:c.794G>A | NP_001094832.1:p.Gly265Asp | |
| NM_001101362.3:c.794G>A MANE Select | NP_001094832.1:p.Gly265Asp |