Linked Data
ClinVar Variation Id:
341898
dbSNP Id:
rs886057596
gnomAD v2:
22-42456015-C-T
gnomAD v3:
22-42060011-C-T
gnomAD v4:
22-42060011-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42060011C>T , CM000684.2:g.42060011C>T | GRCh38 |
| NC_000022.10:g.42456015C>T , CM000684.1:g.42456015C>T | GRCh37 |
| NC_000022.9:g.40785961C>T | NCBI36 |
| NG_009247.1:g.15832G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396398.8:c.*268G>A MANE Select | ENSP00000379680.3:n.*268G>A | |
| ENST00000396398.7:c.*268G>A | ENSP00000379680.3:n.*268G>A | |
| ENST00000402937.1:c.*268G>A | ENSP00000384603.1:n.*268G>A | |
| ENST00000403363.5:c.*268G>A | ENSP00000385283.1:n.*268G>A | |
| NM_000262.2:c.*268G>A | NP_000253.1:n.*268G>A | |
| XM_005261615.3:c.*268G>A | XP_005261672.1:n.*268G>A | |
| XM_005261616.3:c.*268G>A | XP_005261673.1:n.*268G>A | |
| NM_001362848.1:c.*268G>A | NP_001349777.1:n.*268G>A | |
| NM_001362850.1:c.*268G>A | NP_001349779.1:n.*268G>A | |
| NM_000262.3:c.*268G>A MANE Select | NP_000253.1:n.*268G>A |