Linked Data
ClinVar Variation Id:
46349
dbSNP Id:
rs201210744
ExAC:
5:89979980 C / G
gnomAD v2:
5-89979980-C-G
gnomAD v3:
5-90684163-C-G
gnomAD v4:
5-90684163-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90684163C>G , CM000667.2:g.90684163C>G | GRCh38 |
| NC_000005.9:g.89979980C>G , CM000667.1:g.89979980C>G | GRCh37 |
| NC_000005.8:g.90015736C>G | NCBI36 |
| NG_007083.1:g.130364C>G | |
| NG_007083.2:g.159820C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.6242C>G MANE Select | ENSP00000384582.2:p.Ser2081Cys | |
| ENST00000639431.1:c.265+7954C>G | ENSP00000491057.1:n.265+7954C>G | |
| ENST00000639473.1:n.1701C>G | ||
| ENST00000640012.1:c.165-1617C>G | ||
| ENST00000640403.1:c.3533C>G | ENSP00000492531.1:p.Ser1178Cys | |
| ENST00000640779.1:c.1054C>G | ||
| ENST00000405460.6:c.6242C>G | ENSP00000384582.2:p.Ser2081Cys | |
| NM_032119.3:c.6242C>G | NP_115495.3:p.Ser2081Cys | |
| NR_003149.1:n.6338C>G | ||
| XM_011543675.1:c.6239C>G | XP_011541977.1:p.Ser2080Cys | |
| XM_011543676.1:c.6161C>G | XP_011541978.1:p.Ser2054Cys | |
| XM_011543677.1:c.3545C>G | XP_011541979.1:p.Ser1182Cys | |
| XM_011543678.1:c.6242C>G | XP_011541980.1:p.Ser2081Cys | |
| XM_011543679.1:c.6242C>G | XP_011541981.1:p.Ser2081Cys | |
| NM_032119.4:c.6242C>G MANE Select | NP_115495.3:p.Ser2081Cys | |
| XM_017009963.2:c.6242C>G | XP_016865452.1:p.Ser2081Cys | |
| XM_017009964.2:c.6239C>G | XP_016865453.1:p.Ser2080Cys | |
| XM_017009965.1:c.6239C>G | XP_016865454.1:p.Ser2080Cys | |
| XM_017009966.2:c.6161C>G | XP_016865455.1:p.Ser2054Cys | |
| XM_017009967.1:c.6146C>G | XP_016865456.1:p.Ser2049Cys | |
| XM_017009968.2:c.6242C>G | XP_016865457.1:p.Ser2081Cys | |
| XM_017009969.2:c.6242C>G | XP_016865458.1:p.Ser2081Cys | |
| XM_017009970.2:c.6242C>G | XP_016865459.1:p.Ser2081Cys | |
| XM_017009971.2:c.6242C>G | XP_016865460.1:p.Ser2081Cys | |
| XM_017009973.1:c.-558C>G | XP_016865462.1:n.-558C>G | |
| XM_017009974.2:c.6242C>G | XP_016865463.1:p.Ser2081Cys | |
| NR_003149.2:n.6341C>G |