Linked Data
ClinVar Variation Id:
46361
ClinVar RCV Id:
RCV002496635
dbSNP Id:
rs111033470
ExAC:
5:89988549 G / A
gnomAD v2:
5-89988549-G-A
gnomAD v3:
5-90692732-G-A
gnomAD v4:
5-90692732-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90692732G>A , CM000667.2:g.90692732G>A | GRCh38 |
| NC_000005.9:g.89988549G>A , CM000667.1:g.89988549G>A | GRCh37 |
| NC_000005.8:g.90024305G>A | NCBI36 |
| NG_007083.1:g.138933G>A | |
| NG_007083.2:g.168389G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.7079G>A MANE Select | ENSP00000384582.2:p.Arg2360His | |
| ENST00000639431.1:c.265+16523G>A | ENSP00000491057.1:n.265+16523G>A | |
| ENST00000639473.1:n.2538G>A | ||
| ENST00000640012.1:c.886G>A | ||
| ENST00000640374.1:n.223G>A | ||
| ENST00000640403.1:c.4370G>A | ENSP00000492531.1:p.Arg1457His | |
| ENST00000640779.1:c.1808G>A | ||
| ENST00000405460.6:c.7079G>A | ENSP00000384582.2:p.Arg2360His | |
| NM_032119.3:c.7079G>A | NP_115495.3:p.Arg2360His | |
| NR_003149.1:n.7092G>A | ||
| XM_011543675.1:c.7076G>A | XP_011541977.1:p.Arg2359His | |
| XM_011543676.1:c.6998G>A | XP_011541978.1:p.Arg2333His | |
| XM_011543677.1:c.4382G>A | XP_011541979.1:p.Arg1461His | |
| XM_011543678.1:c.7079G>A | XP_011541980.1:p.Arg2360His | |
| XM_011543679.1:c.7079G>A | XP_011541981.1:p.Arg2360His | |
| NM_032119.4:c.7079G>A MANE Select | NP_115495.3:p.Arg2360His | |
| XM_017009963.2:c.7079G>A | XP_016865452.1:p.Arg2360His | |
| XM_017009964.2:c.7076G>A | XP_016865453.1:p.Arg2359His | |
| XM_017009965.1:c.7076G>A | XP_016865454.1:p.Arg2359His | |
| XM_017009966.2:c.6998G>A | XP_016865455.1:p.Arg2333His | |
| XM_017009967.1:c.6983G>A | XP_016865456.1:p.Arg2328His | |
| XM_017009968.2:c.7079G>A | XP_016865457.1:p.Arg2360His | |
| XM_017009969.2:c.7079G>A | XP_016865458.1:p.Arg2360His | |
| XM_017009970.2:c.7079G>A | XP_016865459.1:p.Arg2360His | |
| XM_017009971.2:c.7079G>A | XP_016865460.1:p.Arg2360His | |
| XM_017009972.1:c.197G>A | XP_016865461.1:p.Arg66His | |
| XM_017009973.1:c.197G>A | XP_016865462.1:p.Arg66His | |
| XM_017009974.2:c.7079G>A | XP_016865463.1:p.Arg2360His | |
| NR_003149.2:n.7095G>A |