Linked Data
ClinVar Variation Id:
412206
dbSNP Id:
rs548217466
ExAC:
22:30069388 G / A
gnomAD v2:
22-30069388-G-A
gnomAD v3:
22-29673399-G-A
gnomAD v4:
22-29673399-G-A
PubMed:
PMID:8012353
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29673399G>A , CM000684.2:g.29673399G>A | GRCh38 |
| NC_000022.10:g.30069388G>A , CM000684.1:g.30069388G>A | GRCh37 |
| NC_000022.9:g.28399388G>A | NCBI36 |
| NG_009057.1:g.74844G>A , LRG_511:g.74844G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361166.10:c.1118G>A | ENSP00000354529.6:p.Arg373His | |
| ENST00000673312.2:c.*747G>A | ENSP00000500186.2:n.*747G>A | |
| ENST00000338641.10:c.1253G>A MANE Select | ENSP00000344666.5:p.Arg418His | |
| ENST00000361166.9:c.671G>A | ENSP00000354529.5:p.Arg224His | |
| ENST00000672461.1:c.1253G>A | ENSP00000500919.1:p.Arg418His | |
| ENST00000672805.1:c.*1135G>A | ENSP00000500295.1:n.*1135G>A | |
| ENST00000672896.1:c.1253G>A | ENSP00000500117.1:p.Arg418His | |
| ENST00000673312.1:c.1272G>A | ENSP00000500186.1:n.1272G>A | |
| ENST00000334961.11:c.1004G>A | ENSP00000335652.7:p.Arg335His | |
| ENST00000338641.8:c.1253G>A | ENSP00000344666.4:p.Arg418His | |
| ENST00000353887.8:c.1004G>A | ENSP00000340626.4:p.Arg335His | |
| ENST00000361166.8:c.1253G>A | ENSP00000354529.4:p.Arg418His | |
| ENST00000361452.8:c.1130G>A | ENSP00000354897.4:p.Arg377His | |
| ENST00000361676.8:c.1127G>A | ENSP00000355183.4:p.Arg376His | |
| ENST00000397789.3:c.1253G>A | ENSP00000380891.3:p.Arg418His | |
| ENST00000403435.5:c.1166G>A | ENSP00000384029.1:p.Arg389His | |
| ENST00000403999.7:c.1253G>A | ENSP00000384797.3:p.Arg418His | |
| ENST00000413209.6:c.448-21353G>A | ENSP00000409921.2:n.448-21353G>A | |
| ENST00000432151.5:c.523-1437G>A | ENSP00000395885.1:n.523-1437G>A | |
| NM_000268.3:c.1253G>A , LRG_511t1:c.1253G>A | NP_000259.1:p.Arg418His | |
| NM_016418.5:c.1253G>A , LRG_511t2:c.1253G>A | NP_057502.2:p.Arg418His | |
| NM_181825.2:c.1253G>A | NP_861546.1:p.Arg418His | |
| NM_181828.2:c.1127G>A | NP_861966.1:p.Arg376His | |
| NM_181829.2:c.1130G>A | NP_861967.1:p.Arg377His | |
| NM_181830.2:c.1004G>A | NP_861968.1:p.Arg335His | |
| NM_181831.2:c.1004G>A | NP_861969.1:p.Arg335His | |
| NM_181832.2:c.1253G>A | NP_861970.1:p.Arg418His | |
| NM_181833.2:c.448-21353G>A | NP_861971.1:n.448-21353G>A | |
| NR_156186.1:n.1812G>A | ||
| XM_017028809.2:c.1139G>A | XP_016884298.1:p.Arg380His | |
| XM_017028810.1:c.1139G>A | XP_016884299.1:p.Arg380His | |
| NM_000268.4:c.1253G>A MANE Select | NP_000259.1:p.Arg418His | |
| NM_181825.3:c.1253G>A | NP_861546.1:p.Arg418His | |
| NM_181828.3:c.1127G>A | NP_861966.1:p.Arg376His | |
| NM_181829.3:c.1130G>A | NP_861967.1:p.Arg377His | |
| NM_181830.3:c.1004G>A | NP_861968.1:p.Arg335His | |
| NM_181831.3:c.1004G>A | NP_861969.1:p.Arg335His | |
| NM_181832.3:c.1253G>A | NP_861970.1:p.Arg418His | |
| NR_156186.2:n.1735G>A | ||
| NM_181833.3:c.448-21353G>A | NP_861971.1:n.448-21353G>A |