Linked Data
ClinVar Variation Id:
440324
dbSNP Id:
rs11557600
ExAC:
22:31008882 G / A
gnomAD v2:
22-31008882-G-A
gnomAD v3:
22-30612895-G-A
gnomAD v4:
22-30612895-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30612895G>A , CM000684.2:g.30612895G>A | GRCh38 |
| NC_000022.10:g.31008882G>A , CM000684.1:g.31008882G>A | GRCh37 |
| NC_000022.9:g.29338882G>A | NCBI36 |
| NG_007263.1:g.10722G>A , LRG_116:g.10722G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471659.2:n.451G>A | ||
| ENST00000698263.1:c.280G>A | ENSP00000513635.1:p.Gly94Ser | |
| ENST00000698264.1:n.451G>A | ||
| ENST00000698265.1:c.280G>A | ENSP00000513636.1:p.Gly94Ser | |
| ENST00000698266.1:c.280G>A | ENSP00000513637.1:p.Gly94Ser | |
| ENST00000698267.1:c.280G>A | ENSP00000513638.1:p.Gly94Ser | |
| ENST00000698268.1:c.280G>A | ENSP00000513639.1:p.Gly94Ser | |
| ENST00000698269.1:c.258-1454G>A | ENSP00000513640.1:n.258-1454G>A | |
| ENST00000698270.1:c.280G>A | ENSP00000513641.1:p.Gly94Ser | |
| ENST00000698271.1:c.280G>A | ENSP00000513642.1:p.Gly94Ser | |
| ENST00000698272.1:c.280G>A | ENSP00000513643.1:p.Gly94Ser | |
| ENST00000698273.1:c.271G>A | ENSP00000513644.1:p.Gly91Ser | |
| ENST00000215838.8:c.280G>A MANE Select | ENSP00000215838.3:p.Gly94Ser | |
| ENST00000215838.7:c.280G>A | ENSP00000215838.3:p.Gly94Ser | |
| ENST00000405742.7:c.268G>A | ENSP00000385914.3:p.Gly90Ser | |
| ENST00000407817.3:c.280G>A | ENSP00000384914.3:p.Gly94Ser | |
| ENST00000450638.5:c.205G>A | ENSP00000394184.2:p.Gly69Ser | |
| NM_000355.3:c.280G>A | NP_000346.2:p.Gly94Ser | |
| NM_001184726.1:c.280G>A | NP_001171655.1:p.Gly94Ser | |
| NM_000355.4:c.280G>A MANE Select | NP_000346.2:p.Gly94Ser | |
| NM_001184726.2:c.280G>A | NP_001171655.1:p.Gly94Ser |