Linked Data
ClinVar Variation Id:
476470
dbSNP Id:
rs758758266
ExAC:
21:47551876 G / A
gnomAD v2:
21-47551876-G-A
gnomAD v3:
21-46131962-G-A
gnomAD v4:
21-46131962-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46131962G>A , CM000683.2:g.46131962G>A | GRCh38 |
| NC_000021.8:g.47551876G>A , CM000683.1:g.47551876G>A | GRCh37 |
| NC_000021.7:g.46376304G>A | NCBI36 |
| NG_008675.1:g.38844G>A , LRG_476:g.38844G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300527.9:c.2470G>A MANE Select | ENSP00000300527.4:p.Val824Met | |
| ENST00000300527.8:c.2470G>A | ENSP00000300527.4:p.Val824Met | |
| NM_001849.3:c.2470G>A , LRG_476t1:c.2470G>A | NP_001840.3:p.Val824Met | |
| XM_011529451.1:c.2470G>A | XP_011527753.1:p.Val824Met | |
| XM_011529452.1:c.2470G>A | XP_011527754.1:p.Val824Met | |
| XR_937438.1:n.2547G>A | ||
| XR_937438.2:n.2554G>A | ||
| NM_001849.4:c.2470G>A MANE Select | NP_001840.3:p.Val824Met |