Linked Data
ClinVar Variation Id:
183247
ClinVar RCV Id:
RCV000162080
dbSNP Id:
rs267608319
ExAC:
22:42522751 C / T
gnomAD v2:
22-42522751-C-T
gnomAD v3:
22-42126749-C-T
gnomAD v4:
22-42126749-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126749C>T , CM000684.2:g.42126749C>T | GRCh38 |
| NC_000022.10:g.42522751C>T , CM000684.1:g.42522751C>T | GRCh37 |
| NC_000022.9:g.40852695C>T | NCBI36 |
| NG_008376.3:g.8243G>A | |
| NG_008376.4:g.9062G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.1117G>A | ENSP00000353241.6:n.1117G>A | |
| ENST00000645361.2:c.1319G>A MANE Select | ENSP00000496150.1:p.Arg440His | |
| ENST00000359033.4:c.1166G>A | ENSP00000351927.4:p.Arg389His | |
| ENST00000360124.9:c.937G>A | ENSP00000353241.5:n.937G>A | |
| ENST00000360608.9:c.1319G>A | ENSP00000353820.5:p.Arg440His | |
| ENST00000389970.7:c.1310G>A | ENSP00000374620.4:p.Arg437His | |
| ENST00000488442.1:n.2043G>A | ||
| NM_000106.5:c.1319G>A | NP_000097.3:p.Arg440His | |
| NM_001025161.2:c.1166G>A | NP_001020332.2:p.Arg389His | |
| XM_011529966.1:c.1319G>A | XP_011528268.1:p.Arg440His | |
| XM_011529967.1:c.1319G>A | XP_011528269.1:p.Arg440His | |
| XM_011529968.1:c.1319G>A | XP_011528270.1:p.Arg440His | |
| XM_011529969.1:c.1175G>A | XP_011528271.1:p.Arg392His | |
| XM_011529970.1:c.1166G>A | XP_011528272.1:p.Arg389His | |
| XM_011529971.1:c.1175G>A | XP_011528273.1:p.Arg392His | |
| NM_000106.6:c.1319G>A MANE Select | NP_000097.3:p.Arg440His | |
| NM_001025161.3:c.1166G>A | NP_001020332.2:p.Arg389His |