Linked Data
ClinVar Variation Id:
2539176
ClinVar RCV Id:
RCV004311523
dbSNP Id:
rs768395868
ExAC:
15:64410324 G / A
gnomAD v2:
15-64410324-G-A
gnomAD v4:
15-64118125-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64118125G>A , CM000677.2:g.64118125G>A | GRCh38 |
| NC_000015.9:g.64410324G>A , CM000677.1:g.64410324G>A | GRCh37 |
| NC_000015.8:g.62197377G>A | NCBI36 |
| NG_029708.1:g.27242G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559844.6:c.280G>A MANE Select | ENSP00000453785.1:p.Val94Met | |
| ENST00000261889.9:c.280G>A | ENSP00000261889.5:p.Val94Met | |
| ENST00000380285.7:c.272-78G>A | ENSP00000369638.3:n.272-78G>A | |
| ENST00000558040.5:c.268G>A | ENSP00000452668.1:p.Val90Met | |
| ENST00000559061.5:c.-195G>A | ENSP00000452652.1:n.-195G>A | |
| ENST00000559389.1:c.381G>A | ||
| ENST00000559844.5:c.280G>A | ENSP00000453785.1:p.Val94Met | |
| ENST00000560260.5:c.271+5441G>A | ENSP00000452759.1:n.271+5441G>A | |
| ENST00000560829.5:c.-233G>A | ENSP00000452651.1:n.-233G>A | |
| ENST00000561026.5:c.272-5378G>A | ENSP00000453567.1:n.272-5378G>A | |
| ENST00000625244.2:c.271+5441G>A | ENSP00000486714.1:n.271+5441G>A | |
| NM_001242933.1:c.280G>A | NP_001229862.1:p.Val94Met | |
| NM_003099.4:c.280G>A | NP_003090.2:p.Val94Met | |
| NM_148955.3:c.272-5378G>A | NP_683758.1:n.272-5378G>A | |
| XM_005254611.1:c.-195G>A | XP_005254668.1:n.-195G>A | |
| XM_005254611.3:c.-195G>A | XP_005254668.1:n.-195G>A | |
| XR_001751380.1:n.410G>A | ||
| XR_001751381.1:n.410G>A | ||
| NM_003099.5:c.280G>A MANE Select | NP_003090.2:p.Val94Met | |
| NM_001242933.2:c.280G>A | NP_001229862.1:p.Val94Met | |
| NM_148955.4:c.272-5378G>A | NP_683758.1:n.272-5378G>A |