Linked Data
ClinVar Variation Id:
970235
ClinVar RCV Id:
RCV001245775
dbSNP Id:
rs758103463
ExAC:
5:90021404 A / G
gnomAD v2:
5-90021404-A-G
gnomAD v4:
5-90725587-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90725587A>G , CM000667.2:g.90725587A>G | GRCh38 |
| NC_000005.9:g.90021404A>G , CM000667.1:g.90021404A>G | GRCh37 |
| NC_000005.8:g.90057160A>G | NCBI36 |
| NG_007083.1:g.171788A>G | |
| NG_007083.2:g.201244A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.10092A>G MANE Select | ENSP00000384582.2:p.Arg3364= | |
| ENST00000639431.1:c.265+49378A>G | ENSP00000491057.1:n.265+49378A>G | |
| ENST00000640374.1:n.3236A>G | ||
| ENST00000640464.1:n.511A>G | ||
| ENST00000405460.6:c.10092A>G | ENSP00000384582.2:p.Arg3364= | |
| ENST00000509621.1:c.2789A>G | ||
| NM_032119.3:c.10092A>G | NP_115495.3:p.Arg3364= | |
| NR_003149.1:n.10105A>G | ||
| XM_011543675.1:c.10089A>G | XP_011541977.1:p.Arg3363= | |
| XM_011543676.1:c.10011A>G | XP_011541978.1:p.Arg3337= | |
| XM_011543677.1:c.7395A>G | XP_011541979.1:p.Arg2465= | |
| XM_011543678.1:c.10092A>G | XP_011541980.1:p.Arg3364= | |
| XM_011543679.1:c.10092A>G | XP_011541981.1:p.Arg3364= | |
| XR_948560.1:n.272-9778T>C | ||
| NM_032119.4:c.10092A>G MANE Select | NP_115495.3:p.Arg3364= | |
| XM_017009963.2:c.10113A>G | XP_016865452.1:p.Arg3371= | |
| XM_017009964.2:c.10110A>G | XP_016865453.1:p.Arg3370= | |
| XM_017009965.1:c.10110A>G | XP_016865454.1:p.Arg3370= | |
| XM_017009966.2:c.10032A>G | XP_016865455.1:p.Arg3344= | |
| XM_017009967.1:c.10017A>G | XP_016865456.1:p.Arg3339= | |
| XM_017009968.2:c.10113A>G | XP_016865457.1:p.Arg3371= | |
| XM_017009969.2:c.10113A>G | XP_016865458.1:p.Arg3371= | |
| XM_017009970.2:c.10113A>G | XP_016865459.1:p.Arg3371= | |
| XM_017009971.2:c.10113A>G | XP_016865460.1:p.Arg3371= | |
| XM_017009972.1:c.3231A>G | XP_016865461.1:p.Arg1077= | |
| XM_017009973.1:c.3210A>G | XP_016865462.1:p.Arg1070= | |
| XM_017009974.2:c.10113A>G | XP_016865463.1:p.Arg3371= | |
| XR_001742802.1:n.2523-9778T>C | ||
| NR_003149.2:n.10108A>G |