Linked Data
ClinVar Variation Id:
46404
dbSNP Id:
rs200792658
ExAC:
5:90012539 G / A
gnomAD v2:
5-90012539-G-A
gnomAD v3:
5-90716722-G-A
gnomAD v4:
5-90716722-G-A
COSMIC:
COSM41101
PubMed:
PMID:24123792
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90716722G>A , CM000667.2:g.90716722G>A | GRCh38 |
| NC_000005.9:g.90012539G>A , CM000667.1:g.90012539G>A | GRCh37 |
| NC_000005.8:g.90048295G>A | NCBI36 |
| NG_007083.1:g.162923G>A | |
| NG_007083.2:g.192379G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.9440G>A MANE Select | ENSP00000384582.2:p.Arg3147Gln | |
| ENST00000639431.1:c.265+40513G>A | ENSP00000491057.1:n.265+40513G>A | |
| ENST00000639473.1:n.4899G>A | ||
| ENST00000640374.1:n.2584G>A | ||
| ENST00000640779.1:c.4169G>A | ||
| ENST00000405460.6:c.9440G>A | ENSP00000384582.2:p.Arg3147Gln | |
| ENST00000509621.1:c.2137G>A | ||
| NM_032119.3:c.9440G>A | NP_115495.3:p.Arg3147Gln | |
| NR_003149.1:n.9453G>A | ||
| XM_011543675.1:c.9437G>A | XP_011541977.1:p.Arg3146Gln | |
| XM_011543676.1:c.9359G>A | XP_011541978.1:p.Arg3120Gln | |
| XM_011543677.1:c.6743G>A | XP_011541979.1:p.Arg2248Gln | |
| XM_011543678.1:c.9440G>A | XP_011541980.1:p.Arg3147Gln | |
| XM_011543679.1:c.9440G>A | XP_011541981.1:p.Arg3147Gln | |
| XR_948560.1:n.272-913C>T | ||
| NM_032119.4:c.9440G>A MANE Select | NP_115495.3:p.Arg3147Gln | |
| XM_017009963.2:c.9461G>A | XP_016865452.1:p.Arg3154Gln | |
| XM_017009964.2:c.9458G>A | XP_016865453.1:p.Arg3153Gln | |
| XM_017009965.1:c.9458G>A | XP_016865454.1:p.Arg3153Gln | |
| XM_017009966.2:c.9380G>A | XP_016865455.1:p.Arg3127Gln | |
| XM_017009967.1:c.9365G>A | XP_016865456.1:p.Arg3122Gln | |
| XM_017009968.2:c.9461G>A | XP_016865457.1:p.Arg3154Gln | |
| XM_017009969.2:c.9461G>A | XP_016865458.1:p.Arg3154Gln | |
| XM_017009970.2:c.9461G>A | XP_016865459.1:p.Arg3154Gln | |
| XM_017009971.2:c.9461G>A | XP_016865460.1:p.Arg3154Gln | |
| XM_017009972.1:c.2579G>A | XP_016865461.1:p.Arg860Gln | |
| XM_017009973.1:c.2558G>A | XP_016865462.1:p.Arg853Gln | |
| XM_017009974.2:c.9461G>A | XP_016865463.1:p.Arg3154Gln | |
| XR_001742802.1:n.2523-913C>T | ||
| NR_003149.2:n.9456G>A |