Linked Data
ClinVar Variation Id:
2557675
ClinVar RCV Id:
RCV003295565
dbSNP Id:
rs780315763
ExAC:
22:25627687 G / A
gnomAD v2:
22-25627687-G-A
gnomAD v3:
22-25231720-G-A
gnomAD v4:
22-25231720-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25231720G>A , CM000684.2:g.25231720G>A | GRCh38 |
| NC_000022.10:g.25627687G>A , CM000684.1:g.25627687G>A | GRCh37 |
| NC_000022.9:g.23957687G>A | NCBI36 |
| NG_009827.1:g.17076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398215.3:c.566G>A MANE Select | ENSP00000381273.2:p.Arg189His | |
| ENST00000651629.1:c.566G>A | ENSP00000498905.1:p.Arg189His | |
| ENST00000398215.2:c.566G>A | ENSP00000381273.2:p.Arg189His | |
| NM_000496.2:c.566G>A | NP_000487.1:p.Arg189His | |
| XM_006724141.2:c.566G>A | XP_006724204.1:p.Arg189His | |
| XM_011529900.1:c.566G>A | XP_011528202.1:p.Arg189His | |
| XM_011529901.1:c.566G>A | XP_011528203.1:p.Arg189His | |
| XM_006724141.3:c.566G>A | XP_006724204.1:p.Arg189His | |
| XM_011529900.2:c.566G>A | XP_011528202.1:p.Arg189His | |
| NM_000496.3:c.566G>A MANE Select | NP_000487.1:p.Arg189His |