Linked Data
ClinVar Variation Id:
128815
dbSNP Id:
rs117931394
ExAC:
21:47552386 G / A
gnomAD v2:
21-47552386-G-A
gnomAD v3:
21-46132472-G-A
gnomAD v4:
21-46132472-G-A
COSMIC:
COSM3681329
PubMed:
PMID:24801232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132472G>A , CM000683.2:g.46132472G>A | GRCh38 |
| NC_000021.8:g.47552386G>A , CM000683.1:g.47552386G>A | GRCh37 |
| NC_000021.7:g.46376814G>A | NCBI36 |
| NG_008675.1:g.39354G>A , LRG_476:g.39354G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300527.9:c.2980G>A MANE Select | ENSP00000300527.4:p.Ala994Thr | |
| ENST00000300527.8:c.2980G>A | ENSP00000300527.4:p.Ala994Thr | |
| NM_001849.3:c.2980G>A , LRG_476t1:c.2980G>A | NP_001840.3:p.Ala994Thr | |
| XM_011529451.1:c.2980G>A | XP_011527753.1:p.Ala994Thr | |
| XM_011529452.1:c.2980G>A | XP_011527754.1:p.Ala994Thr | |
| XR_937438.1:n.3057G>A | ||
| XR_937438.2:n.3064G>A | ||
| NM_001849.4:c.2980G>A MANE Select | NP_001840.3:p.Ala994Thr |