Linked Data
ClinVar Variation Id:
1209168
ClinVar RCV Id:
RCV001577745
dbSNP Id:
rs1285918997
gnomAD v2:
X-22151665-G-A
gnomAD v4:
X-22133548-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22133548G>A , CM000685.2:g.22133548G>A | GRCh38 |
| NC_000023.10:g.22151665G>A , CM000685.1:g.22151665G>A | GRCh37 |
| NC_000023.9:g.22061586G>A | NCBI36 |
| NG_007563.2:g.105745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684745.1:n.1002G>A | ||
| ENST00000379374.5:c.1328G>A MANE Select | ENSP00000368682.4:p.Arg443His | |
| ENST00000379374.4:c.1328G>A | ENSP00000368682.4:p.Arg443His | |
| NM_000444.5:c.1328G>A | NP_000435.3:p.Arg443His | |
| NM_001282754.1:c.1328G>A | NP_001269683.1:p.Arg443His | |
| XM_011545533.1:c.572G>A | XP_011543835.1:p.Arg191His | |
| XM_011545534.1:c.572G>A | XP_011543836.1:p.Arg191His | |
| XM_011545535.1:c.1328G>A | XP_011543837.1:p.Arg443His | |
| XM_011545536.1:c.221G>A | XP_011543838.1:p.Arg74His | |
| XM_011545536.2:c.221G>A | XP_011543838.1:p.Arg74His | |
| XM_017029579.1:c.572G>A | XP_016885068.1:p.Arg191His | |
| XM_024452390.1:c.1037G>A | XP_024308158.1:p.Arg346His | |
| XR_001755695.1:n.2007G>A | ||
| NM_000444.6:c.1328G>A MANE Select | NP_000435.3:p.Arg443His | |
| NM_001282754.2:c.1328G>A | NP_001269683.1:p.Arg443His |