Linked Data
ClinVar Variation Id:
527691
ClinVar RCV Id:
RCV003459508
dbSNP Id:
rs145384260
ExAC:
22:30057201 A / G
gnomAD v2:
22-30057201-A-G
gnomAD v3:
22-29661212-A-G
gnomAD v4:
22-29661212-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29661212A>G , CM000684.2:g.29661212A>G | GRCh38 |
| NC_000022.10:g.30057201A>G , CM000684.1:g.30057201A>G | GRCh37 |
| NC_000022.9:g.28387201A>G | NCBI36 |
| NG_009057.1:g.62657A>G , LRG_511:g.62657A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361166.10:c.675+2948A>G | ENSP00000354529.6:n.675+2948A>G | |
| ENST00000673312.2:c.*177A>G | ENSP00000500186.2:n.*177A>G | |
| ENST00000338641.10:c.683A>G MANE Select | ENSP00000344666.5:p.Lys228Arg | |
| ENST00000361166.9:c.228+2948A>G | ENSP00000354529.5:n.228+2948A>G | |
| ENST00000672461.1:c.683A>G | ENSP00000500919.1:p.Lys228Arg | |
| ENST00000672805.1:c.*565A>G | ENSP00000500295.1:n.*565A>G | |
| ENST00000672896.1:c.683A>G | ENSP00000500117.1:p.Lys228Arg | |
| ENST00000673312.1:c.702A>G | ENSP00000500186.1:n.702A>G | |
| ENST00000334961.11:c.434A>G | ENSP00000335652.7:p.Lys145Arg | |
| ENST00000338641.8:c.683A>G | ENSP00000344666.4:p.Lys228Arg | |
| ENST00000353887.8:c.434A>G | ENSP00000340626.4:p.Lys145Arg | |
| ENST00000361166.8:c.683A>G | ENSP00000354529.4:p.Lys228Arg | |
| ENST00000361452.8:c.560A>G | ENSP00000354897.4:p.Lys187Arg | |
| ENST00000361676.8:c.557A>G | ENSP00000355183.4:p.Lys186Arg | |
| ENST00000397789.3:c.683A>G | ENSP00000380891.3:p.Lys228Arg | |
| ENST00000403435.5:c.683A>G | ENSP00000384029.1:p.Lys228Arg | |
| ENST00000403999.7:c.683A>G | ENSP00000384797.3:p.Lys228Arg | |
| ENST00000413209.6:c.447+18927A>G | ENSP00000409921.2:n.447+18927A>G | |
| ENST00000432151.5:c.206A>G | ENSP00000395885.1:p.Lys69Arg | |
| NM_000268.3:c.683A>G , LRG_511t1:c.683A>G | NP_000259.1:p.Lys228Arg | |
| NM_016418.5:c.683A>G , LRG_511t2:c.683A>G | NP_057502.2:p.Lys228Arg | |
| NM_181825.2:c.683A>G | NP_861546.1:p.Lys228Arg | |
| NM_181828.2:c.557A>G | NP_861966.1:p.Lys186Arg | |
| NM_181829.2:c.560A>G | NP_861967.1:p.Lys187Arg | |
| NM_181830.2:c.434A>G | NP_861968.1:p.Lys145Arg | |
| NM_181831.2:c.434A>G | NP_861969.1:p.Lys145Arg | |
| NM_181832.2:c.683A>G | NP_861970.1:p.Lys228Arg | |
| NM_181833.2:c.447+18927A>G | NP_861971.1:n.447+18927A>G | |
| NR_156186.1:n.1242A>G | ||
| XM_017028809.2:c.569A>G | XP_016884298.1:p.Lys190Arg | |
| XM_017028810.1:c.569A>G | XP_016884299.1:p.Lys190Arg | |
| NM_000268.4:c.683A>G MANE Select | NP_000259.1:p.Lys228Arg | |
| NM_181825.3:c.683A>G | NP_861546.1:p.Lys228Arg | |
| NM_181828.3:c.557A>G | NP_861966.1:p.Lys186Arg | |
| NM_181829.3:c.560A>G | NP_861967.1:p.Lys187Arg | |
| NM_181830.3:c.434A>G | NP_861968.1:p.Lys145Arg | |
| NM_181831.3:c.434A>G | NP_861969.1:p.Lys145Arg | |
| NM_181832.3:c.683A>G | NP_861970.1:p.Lys228Arg | |
| NR_156186.2:n.1165A>G | ||
| NM_181833.3:c.447+18927A>G | NP_861971.1:n.447+18927A>G |