Linked Data
ClinVar Variation Id:
4009
dbSNP Id:
rs1807467
ExAC:
22:18905893 C / A
gnomAD v2:
22-18905893-C-A
gnomAD v3:
22-18918380-C-A
gnomAD v4:
22-18918380-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18918380C>A , CM000684.2:g.18918380C>A | GRCh38 |
| NC_000022.10:g.18905893C>A , CM000684.1:g.18905893C>A | GRCh37 |
| NC_000022.9:g.17285893C>A | NCBI36 |
| NG_008226.2:g.23174G>T | |
| NG_008226.3:g.23174G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357068.11:c.1363G>T MANE Select | ENSP00000349577.6:p.Ala455Ser | |
| ENST00000638240.1:c.513+7352C>A | ENSP00000492446.1:n.513+7352C>A | |
| ENST00000313755.9:n.2128G>T | ||
| ENST00000334029.6:c.1039G>T | ENSP00000334726.2:p.Ala347Ser | |
| ENST00000357068.10:c.1363G>T | ENSP00000349577.6:p.Ala455Ser | |
| ENST00000420436.5:c.1039G>T | ENSP00000410805.1:p.Ala347Ser | |
| ENST00000429300.5:n.1734G>T | ||
| ENST00000482858.5:n.3843G>T | ||
| ENST00000491604.5:n.2272G>T | ||
| ENST00000609229.1:n.2216G>T | ||
| ENST00000610940.4:c.1363G>T | ENSP00000480347.1:p.Ala455Ser | |
| NM_001195226.1:c.1039G>T | NP_001182155.1:p.Ala347Ser | |
| NM_016335.4:c.1363G>T | NP_057419.4:p.Ala455Ser | |
| XM_011530278.1:c.790G>T | XP_011528580.1:p.Ala264Ser | |
| XM_011530279.1:c.583G>T | XP_011528581.1:p.Ala195Ser | |
| XR_937876.1:n.1430G>T | ||
| NM_001195226.2:c.1039G>T | NP_001182155.2:p.Ala347Ser | |
| NM_016335.5:c.1363G>T | NP_057419.5:p.Ala455Ser | |
| NM_016335.6:c.1363G>T MANE Select | NP_057419.5:p.Ala455Ser |