Linked Data
ClinVar Variation Id:
457904
dbSNP Id:
rs1049732514
ExAC:
22:30077554 C / G
gnomAD v2:
22-30077554-C-G
gnomAD v3:
22-29681565-C-G
gnomAD v4:
22-29681565-C-G
MyVariant Identifiers:
chr22:g.30077554C>G (hg19)
chr22:g.30077554_30077556delinsGAG (hg19)
chr22:g.29681565C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29681565C>G , CM000684.2:g.29681565C>G | GRCh38 |
| NC_000022.10:g.30077554C>G , CM000684.1:g.30077554C>G | GRCh37 |
| NC_000022.9:g.28407554C>G | NCBI36 |
| NG_009057.1:g.83010C>G , LRG_511:g.83010C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361166.10:c.1566C>G | ENSP00000354529.6:p.Asp522Glu | |
| ENST00000673312.2:c.*1195C>G | ENSP00000500186.2:n.*1195C>G | |
| ENST00000338641.10:c.1701C>G MANE Select | ENSP00000344666.5:p.Asp567Glu | |
| ENST00000361166.9:c.1119C>G | ENSP00000354529.5:p.Asp373Glu | |
| ENST00000672461.1:c.1701C>G | ENSP00000500919.1:p.Asp567Glu | |
| ENST00000672805.1:c.*1583C>G | ENSP00000500295.1:n.*1583C>G | |
| ENST00000672896.1:c.1701C>G | ENSP00000500117.1:p.Asp567Glu | |
| ENST00000673312.1:c.1720C>G | ENSP00000500186.1:n.1720C>G | |
| ENST00000334961.11:c.1452C>G | ENSP00000335652.7:p.Asp484Glu | |
| ENST00000338641.8:c.1701C>G | ENSP00000344666.4:p.Asp567Glu | |
| ENST00000353887.8:c.1452C>G | ENSP00000340626.4:p.Asp484Glu | |
| ENST00000361166.8:c.1701C>G | ENSP00000354529.4:p.Asp567Glu | |
| ENST00000361452.8:c.1578C>G | ENSP00000354897.4:p.Asp526Glu | |
| ENST00000361676.8:c.1575C>G | ENSP00000355183.4:p.Asp525Glu | |
| ENST00000397789.3:c.1701C>G | ENSP00000380891.3:p.Asp567Glu | |
| ENST00000403435.5:c.1614C>G | ENSP00000384029.1:p.Asp538Glu | |
| ENST00000403999.7:c.1701C>G | ENSP00000384797.3:p.Asp567Glu | |
| ENST00000413209.6:c.448-13187C>G | ENSP00000409921.2:n.448-13187C>G | |
| ENST00000432151.5:c.*93+3242C>G | ENSP00000395885.1:n.*93+3242C>G | |
| NM_000268.3:c.1701C>G , LRG_511t1:c.1701C>G | NP_000259.1:p.Asp567Glu | |
| NM_016418.5:c.1701C>G , LRG_511t2:c.1701C>G | NP_057502.2:p.Asp567Glu | |
| NM_181825.2:c.1701C>G | NP_861546.1:p.Asp567Glu | |
| NM_181828.2:c.1575C>G | NP_861966.1:p.Asp525Glu | |
| NM_181829.2:c.1578C>G | NP_861967.1:p.Asp526Glu | |
| NM_181830.2:c.1452C>G | NP_861968.1:p.Asp484Glu | |
| NM_181831.2:c.1452C>G | NP_861969.1:p.Asp484Glu | |
| NM_181832.2:c.1701C>G | NP_861970.1:p.Asp567Glu | |
| NM_181833.2:c.448-13187C>G | NP_861971.1:n.448-13187C>G | |
| NR_156186.1:n.2260C>G | ||
| XM_017028809.2:c.1587C>G | XP_016884298.1:p.Asp529Glu | |
| XM_017028810.1:c.1587C>G | XP_016884299.1:p.Asp529Glu | |
| NM_000268.4:c.1701C>G MANE Select | NP_000259.1:p.Asp567Glu | |
| NM_181825.3:c.1701C>G | NP_861546.1:p.Asp567Glu | |
| NM_181828.3:c.1575C>G | NP_861966.1:p.Asp525Glu | |
| NM_181829.3:c.1578C>G | NP_861967.1:p.Asp526Glu | |
| NM_181830.3:c.1452C>G | NP_861968.1:p.Asp484Glu | |
| NM_181831.3:c.1452C>G | NP_861969.1:p.Asp484Glu | |
| NM_181832.3:c.1701C>G | NP_861970.1:p.Asp567Glu | |
| NR_156186.2:n.2183C>G | ||
| NM_181833.3:c.448-13187C>G | NP_861971.1:n.448-13187C>G |