Linked Data
ClinVar Variation Id:
828892
ClinVar RCV Id:
RCV001028806
dbSNP Id:
rs1058172
ExAC:
22:42523528 C / T
gnomAD v2:
22-42523528-C-T
gnomAD v3:
22-42127526-C-T
gnomAD v4:
22-42127526-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127526C>T , CM000684.2:g.42127526C>T | GRCh38 |
| NC_000022.10:g.42523528C>T , CM000684.1:g.42523528C>T | GRCh37 |
| NC_000022.9:g.40853472C>T | NCBI36 |
| NG_008376.3:g.7466G>A | |
| NG_008376.4:g.8285G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.892G>A | ENSP00000353241.6:n.892G>A | |
| ENST00000645361.2:c.1094G>A MANE Select | ENSP00000496150.1:p.Arg365His | |
| ENST00000359033.4:c.941G>A | ENSP00000351927.4:p.Arg314His | |
| ENST00000360124.9:c.712G>A | ENSP00000353241.5:n.712G>A | |
| ENST00000360608.9:c.1094G>A | ENSP00000353820.5:p.Arg365His | |
| ENST00000389970.7:c.1085G>A | ENSP00000374620.4:p.Arg362His | |
| ENST00000488442.1:n.1818G>A | ||
| NM_000106.5:c.1094G>A | NP_000097.3:p.Arg365His | |
| NM_001025161.2:c.941G>A | NP_001020332.2:p.Arg314His | |
| XM_011529966.1:c.1094G>A | XP_011528268.1:p.Arg365His | |
| XM_011529967.1:c.1094G>A | XP_011528269.1:p.Arg365His | |
| XM_011529968.1:c.1094G>A | XP_011528270.1:p.Arg365His | |
| XM_011529969.1:c.950G>A | XP_011528271.1:p.Arg317His | |
| XM_011529970.1:c.941G>A | XP_011528272.1:p.Arg314His | |
| XM_011529971.1:c.950G>A | XP_011528273.1:p.Arg317His | |
| XM_011529972.1:c.*79G>A | XP_011528274.1:n.*79G>A | |
| NM_000106.6:c.1094G>A MANE Select | NP_000097.3:p.Arg365His | |
| NM_001025161.3:c.941G>A | NP_001020332.2:p.Arg314His |