Linked Data
ClinVar Variation Id:
527704
dbSNP Id:
rs1293851600
gnomAD v2:
22-30090768-G-A
gnomAD v4:
22-29694779-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29694779G>A , CM000684.2:g.29694779G>A | GRCh38 |
| NC_000022.10:g.30090768G>A , CM000684.1:g.30090768G>A | GRCh37 |
| NC_000022.9:g.28420768G>A | NCBI36 |
| NG_009057.1:g.96224G>A , LRG_511:g.96224G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361166.10:c.1630G>A | ENSP00000354529.6:p.Val544Met | |
| ENST00000673312.2:c.*1259G>A | ENSP00000500186.2:n.*1259G>A | |
| ENST00000338641.10:c.1765G>A MANE Select | ENSP00000344666.5:p.Val589Met | |
| ENST00000361166.9:c.1183G>A | ENSP00000354529.5:p.Val395Met | |
| ENST00000672461.1:c.*37G>A | ENSP00000500919.1:n.*37G>A | |
| ENST00000672805.1:c.*1647G>A | ENSP00000500295.1:n.*1647G>A | |
| ENST00000672896.1:c.*37G>A | ENSP00000500117.1:n.*37G>A | |
| ENST00000673312.1:c.1784G>A | ENSP00000500186.1:n.1784G>A | |
| ENST00000338641.8:c.1765G>A | ENSP00000344666.4:p.Val589Met | |
| ENST00000353887.8:c.*37G>A | ENSP00000340626.4:n.*37G>A | |
| ENST00000361166.8:c.1810G>A | ENSP00000354529.4:n.1810G>A | |
| ENST00000361452.8:c.*37G>A | ENSP00000354897.4:n.*37G>A | |
| ENST00000361676.8:c.1684G>A | ENSP00000355183.4:n.1684G>A | |
| ENST00000397789.3:c.1825G>A | ENSP00000380891.3:n.1825G>A | |
| ENST00000413209.6:c.475G>A | ENSP00000409921.2:p.Val159Met | |
| ENST00000432151.5:c.*121G>A | ENSP00000395885.1:n.*121G>A | |
| NM_000268.3:c.1765G>A , LRG_511t1:c.1765G>A | NP_000259.1:p.Val589Met | |
| NM_016418.5:c.*37G>A , LRG_511t2:c.*37G>A | NP_057502.2:n.*37G>A | |
| NM_181828.2:c.*37G>A | NP_861966.1:n.*37G>A | |
| NM_181829.2:c.*37G>A | NP_861967.1:n.*37G>A | |
| NM_181830.2:c.*37G>A | NP_861968.1:n.*37G>A | |
| NM_181832.2:c.*52G>A | NP_861970.1:n.*52G>A | |
| NM_181833.2:c.475G>A | NP_861971.1:p.Val159Met | |
| NR_156186.1:n.2324G>A | ||
| XM_017028809.2:c.1651G>A | XP_016884298.1:p.Val551Met | |
| XM_017028810.1:c.*37G>A | XP_016884299.1:n.*37G>A | |
| NM_000268.4:c.1765G>A MANE Select | NP_000259.1:p.Val589Met | |
| NM_181828.3:c.*37G>A | NP_861966.1:n.*37G>A | |
| NM_181829.3:c.*37G>A | NP_861967.1:n.*37G>A | |
| NM_181830.3:c.*37G>A | NP_861968.1:n.*37G>A | |
| NM_181832.3:c.*52G>A | NP_861970.1:n.*52G>A | |
| NR_156186.2:n.2247G>A | ||
| NM_181833.3:c.475G>A | NP_861971.1:p.Val159Met |