Linked Data
ClinVar Variation Id:
527707
dbSNP Id:
rs768053145
ExAC:
22:30067828 G / A
gnomAD v2:
22-30067828-G-A
gnomAD v3:
22-29671839-G-A
gnomAD v4:
22-29671839-G-A
COSMIC:
COSM398148
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29671839G>A , CM000684.2:g.29671839G>A | GRCh38 |
| NC_000022.10:g.30067828G>A , CM000684.1:g.30067828G>A | GRCh37 |
| NC_000022.9:g.28397828G>A | NCBI36 |
| NG_009057.1:g.73284G>A , LRG_511:g.73284G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361166.10:c.878G>A | ENSP00000354529.6:p.Arg293His | |
| ENST00000673312.2:c.*507G>A | ENSP00000500186.2:n.*507G>A | |
| ENST00000338641.10:c.1013G>A MANE Select | ENSP00000344666.5:p.Arg338His | |
| ENST00000361166.9:c.431G>A | ENSP00000354529.5:p.Arg144His | |
| ENST00000672461.1:c.1013G>A | ENSP00000500919.1:p.Arg338His | |
| ENST00000672805.1:c.*895G>A | ENSP00000500295.1:n.*895G>A | |
| ENST00000672896.1:c.1013G>A | ENSP00000500117.1:p.Arg338His | |
| ENST00000673312.1:c.1032G>A | ENSP00000500186.1:n.1032G>A | |
| ENST00000334961.11:c.764G>A | ENSP00000335652.7:p.Arg255His | |
| ENST00000338641.8:c.1013G>A | ENSP00000344666.4:p.Arg338His | |
| ENST00000353887.8:c.764G>A | ENSP00000340626.4:p.Arg255His | |
| ENST00000361166.8:c.1013G>A | ENSP00000354529.4:p.Arg338His | |
| ENST00000361452.8:c.890G>A | ENSP00000354897.4:p.Arg297His | |
| ENST00000361676.8:c.887G>A | ENSP00000355183.4:p.Arg296His | |
| ENST00000397789.3:c.1013G>A | ENSP00000380891.3:p.Arg338His | |
| ENST00000403435.5:c.1000-74G>A | ENSP00000384029.1:n.1000-74G>A | |
| ENST00000403999.7:c.1013G>A | ENSP00000384797.3:p.Arg338His | |
| ENST00000413209.6:c.448-22913G>A | ENSP00000409921.2:n.448-22913G>A | |
| ENST00000432151.5:c.523-2997G>A | ENSP00000395885.1:n.523-2997G>A | |
| NM_000268.3:c.1013G>A , LRG_511t1:c.1013G>A | NP_000259.1:p.Arg338His | |
| NM_016418.5:c.1013G>A , LRG_511t2:c.1013G>A | NP_057502.2:p.Arg338His | |
| NM_181825.2:c.1013G>A | NP_861546.1:p.Arg338His | |
| NM_181828.2:c.887G>A | NP_861966.1:p.Arg296His | |
| NM_181829.2:c.890G>A | NP_861967.1:p.Arg297His | |
| NM_181830.2:c.764G>A | NP_861968.1:p.Arg255His | |
| NM_181831.2:c.764G>A | NP_861969.1:p.Arg255His | |
| NM_181832.2:c.1013G>A | NP_861970.1:p.Arg338His | |
| NM_181833.2:c.448-22913G>A | NP_861971.1:n.448-22913G>A | |
| NR_156186.1:n.1572G>A | ||
| XM_017028809.2:c.899G>A | XP_016884298.1:p.Arg300His | |
| XM_017028810.1:c.899G>A | XP_016884299.1:p.Arg300His | |
| NM_000268.4:c.1013G>A MANE Select | NP_000259.1:p.Arg338His | |
| NM_181825.3:c.1013G>A | NP_861546.1:p.Arg338His | |
| NM_181828.3:c.887G>A | NP_861966.1:p.Arg296His | |
| NM_181829.3:c.890G>A | NP_861967.1:p.Arg297His | |
| NM_181830.3:c.764G>A | NP_861968.1:p.Arg255His | |
| NM_181831.3:c.764G>A | NP_861969.1:p.Arg255His | |
| NM_181832.3:c.1013G>A | NP_861970.1:p.Arg338His | |
| NR_156186.2:n.1495G>A | ||
| NM_181833.3:c.448-22913G>A | NP_861971.1:n.448-22913G>A |