Linked Data
ClinVar Variation Id:
288392
dbSNP Id:
rs150168522
ExAC:
21:47552281 G / C
gnomAD v2:
21-47552281-G-C
gnomAD v3:
21-46132367-G-C
gnomAD v4:
21-46132367-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132367G>C , CM000683.2:g.46132367G>C | GRCh38 |
| NC_000021.8:g.47552281G>C , CM000683.1:g.47552281G>C | GRCh37 |
| NC_000021.7:g.46376709G>C | NCBI36 |
| NG_008675.1:g.39249G>C , LRG_476:g.39249G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300527.9:c.2875G>C MANE Select | ENSP00000300527.4:p.Glu959Gln | |
| ENST00000300527.8:c.2875G>C | ENSP00000300527.4:p.Glu959Gln | |
| NM_001849.3:c.2875G>C , LRG_476t1:c.2875G>C | NP_001840.3:p.Glu959Gln | |
| XM_011529451.1:c.2875G>C | XP_011527753.1:p.Glu959Gln | |
| XM_011529452.1:c.2875G>C | XP_011527754.1:p.Glu959Gln | |
| XR_937438.1:n.2952G>C | ||
| XR_937438.2:n.2959G>C | ||
| NM_001849.4:c.2875G>C MANE Select | NP_001840.3:p.Glu959Gln |