Linked Data
ClinVar Variation Id:
210747
dbSNP Id:
rs139552940
ExAC:
21:47551895 G / A
gnomAD v2:
21-47551895-G-A
gnomAD v3:
21-46131981-G-A
gnomAD v4:
21-46131981-G-A
COSMIC:
COSM3390053
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46131981G>A , CM000683.2:g.46131981G>A | GRCh38 |
| NC_000021.8:g.47551895G>A , CM000683.1:g.47551895G>A | GRCh37 |
| NC_000021.7:g.46376323G>A | NCBI36 |
| NG_008675.1:g.38863G>A , LRG_476:g.38863G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300527.9:c.2489G>A MANE Select | ENSP00000300527.4:p.Arg830Gln | |
| ENST00000300527.8:c.2489G>A | ENSP00000300527.4:p.Arg830Gln | |
| NM_001849.3:c.2489G>A , LRG_476t1:c.2489G>A | NP_001840.3:p.Arg830Gln | |
| XM_011529451.1:c.2489G>A | XP_011527753.1:p.Arg830Gln | |
| XM_011529452.1:c.2489G>A | XP_011527754.1:p.Arg830Gln | |
| XR_937438.1:n.2566G>A | ||
| XR_937438.2:n.2573G>A | ||
| NM_001849.4:c.2489G>A MANE Select | NP_001840.3:p.Arg830Gln |