Linked Data
ClinVar Variation Id:
178958
dbSNP Id:
rs201583659
ExAC:
5:89990446 C / T
gnomAD v2:
5-89990446-C-T
gnomAD v3:
5-90694629-C-T
gnomAD v4:
5-90694629-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90694629C>T , CM000667.2:g.90694629C>T | GRCh38 |
| NC_000005.9:g.89990446C>T , CM000667.1:g.89990446C>T | GRCh37 |
| NC_000005.8:g.90026202C>T | NCBI36 |
| NG_007083.1:g.140830C>T | |
| NG_007083.2:g.170286C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.7873C>T MANE Select | ENSP00000384582.2:p.Arg2625Cys | |
| ENST00000639431.1:c.265+18420C>T | ENSP00000491057.1:n.265+18420C>T | |
| ENST00000639473.1:n.3332C>T | ||
| ENST00000640012.1:c.1680C>T | ||
| ENST00000640374.1:n.1017C>T | ||
| ENST00000640403.1:c.5164C>T | ENSP00000492531.1:p.Arg1722Cys | |
| ENST00000640779.1:c.2602C>T | ||
| ENST00000405460.6:c.7873C>T | ENSP00000384582.2:p.Arg2625Cys | |
| ENST00000509621.1:c.570C>T | ||
| NM_032119.3:c.7873C>T | NP_115495.3:p.Arg2625Cys | |
| NR_003149.1:n.7886C>T | ||
| XM_011543675.1:c.7870C>T | XP_011541977.1:p.Arg2624Cys | |
| XM_011543676.1:c.7792C>T | XP_011541978.1:p.Arg2598Cys | |
| XM_011543677.1:c.5176C>T | XP_011541979.1:p.Arg1726Cys | |
| XM_011543678.1:c.7873C>T | XP_011541980.1:p.Arg2625Cys | |
| XM_011543679.1:c.7873C>T | XP_011541981.1:p.Arg2625Cys | |
| NM_032119.4:c.7873C>T MANE Select | NP_115495.3:p.Arg2625Cys | |
| XM_017009963.2:c.7873C>T | XP_016865452.1:p.Arg2625Cys | |
| XM_017009964.2:c.7870C>T | XP_016865453.1:p.Arg2624Cys | |
| XM_017009965.1:c.7870C>T | XP_016865454.1:p.Arg2624Cys | |
| XM_017009966.2:c.7792C>T | XP_016865455.1:p.Arg2598Cys | |
| XM_017009967.1:c.7777C>T | XP_016865456.1:p.Arg2593Cys | |
| XM_017009968.2:c.7873C>T | XP_016865457.1:p.Arg2625Cys | |
| XM_017009969.2:c.7873C>T | XP_016865458.1:p.Arg2625Cys | |
| XM_017009970.2:c.7873C>T | XP_016865459.1:p.Arg2625Cys | |
| XM_017009971.2:c.7873C>T | XP_016865460.1:p.Arg2625Cys | |
| XM_017009972.1:c.991C>T | XP_016865461.1:p.Arg331Cys | |
| XM_017009973.1:c.991C>T | XP_016865462.1:p.Arg331Cys | |
| XM_017009974.2:c.7873C>T | XP_016865463.1:p.Arg2625Cys | |
| NR_003149.2:n.7889C>T |