Linked Data
ClinVar Variation Id:
2210366
ClinVar RCV Id:
RCV004074908
dbSNP Id:
rs747798834
ExAC:
15:59417038 G / A
gnomAD v2:
15-59417038-G-A
gnomAD v3:
15-59124839-G-A
gnomAD v4:
15-59124839-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.59124839G>A , CM000677.2:g.59124839G>A | GRCh38 |
| NC_000015.9:g.59417038G>A , CM000677.1:g.59417038G>A | GRCh37 |
| NC_000015.8:g.57204330G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288207.7:c.1159G>A MANE Select | ENSP00000288207.2:p.Val387Ile | |
| ENST00000288207.6:c.1159G>A | ENSP00000288207.2:p.Val387Ile | |
| ENST00000559622.5:c.775G>A | ENSP00000453685.1:p.Val259Ile | |
| ENST00000621385.1:c.2298G>A | ENSP00000480809.1:n.2298G>A | |
| NM_004701.3:c.1159G>A | NP_004692.1:p.Val387Ile | |
| NM_004701.4:c.1159G>A MANE Select | NP_004692.1:p.Val387Ile |