Linked Data
ClinVar Variation Id:
340387
dbSNP Id:
rs142432514
ExAC:
21:47552392 G / A
gnomAD v2:
21-47552392-G-A
gnomAD v3:
21-46132478-G-A
gnomAD v4:
21-46132478-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132478G>A , CM000683.2:g.46132478G>A | GRCh38 |
| NC_000021.8:g.47552392G>A , CM000683.1:g.47552392G>A | GRCh37 |
| NC_000021.7:g.46376820G>A | NCBI36 |
| NG_008675.1:g.39360G>A , LRG_476:g.39360G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300527.9:c.2986G>A MANE Select | ENSP00000300527.4:p.Val996Met | |
| ENST00000300527.8:c.2986G>A | ENSP00000300527.4:p.Val996Met | |
| NM_001849.3:c.2986G>A , LRG_476t1:c.2986G>A | NP_001840.3:p.Val996Met | |
| XM_011529451.1:c.2986G>A | XP_011527753.1:p.Val996Met | |
| XM_011529452.1:c.2986G>A | XP_011527754.1:p.Val996Met | |
| XR_937438.1:n.3063G>A | ||
| XR_937438.2:n.3070G>A | ||
| NM_001849.4:c.2986G>A MANE Select | NP_001840.3:p.Val996Met |