Linked Data
ClinVar Variation Id:
2986981
ClinVar RCV Id:
RCV003846636
dbSNP Id:
rs750781900
ExAC:
5:90012447 A / G
gnomAD v2:
5-90012447-A-G
gnomAD v4:
5-90716630-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90716630A>G , CM000667.2:g.90716630A>G | GRCh38 |
| NC_000005.9:g.90012447A>G , CM000667.1:g.90012447A>G | GRCh37 |
| NC_000005.8:g.90048203A>G | NCBI36 |
| NG_007083.1:g.162831A>G | |
| NG_007083.2:g.192287A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.9348A>G MANE Select | ENSP00000384582.2:p.Thr3116= | |
| ENST00000639431.1:c.265+40421A>G | ENSP00000491057.1:n.265+40421A>G | |
| ENST00000639473.1:n.4807A>G | ||
| ENST00000640012.1:c.3155A>G | ||
| ENST00000640374.1:n.2492A>G | ||
| ENST00000640779.1:c.4077A>G | ||
| ENST00000405460.6:c.9348A>G | ENSP00000384582.2:p.Thr3116= | |
| ENST00000509621.1:c.2045A>G | ||
| NM_032119.3:c.9348A>G | NP_115495.3:p.Thr3116= | |
| NR_003149.1:n.9361A>G | ||
| XM_011543675.1:c.9345A>G | XP_011541977.1:p.Thr3115= | |
| XM_011543676.1:c.9267A>G | XP_011541978.1:p.Thr3089= | |
| XM_011543677.1:c.6651A>G | XP_011541979.1:p.Thr2217= | |
| XM_011543678.1:c.9348A>G | XP_011541980.1:p.Thr3116= | |
| XM_011543679.1:c.9348A>G | XP_011541981.1:p.Thr3116= | |
| XR_948560.1:n.272-821T>C | ||
| NM_032119.4:c.9348A>G MANE Select | NP_115495.3:p.Thr3116= | |
| XM_017009963.2:c.9369A>G | XP_016865452.1:p.Thr3123= | |
| XM_017009964.2:c.9366A>G | XP_016865453.1:p.Thr3122= | |
| XM_017009965.1:c.9366A>G | XP_016865454.1:p.Thr3122= | |
| XM_017009966.2:c.9288A>G | XP_016865455.1:p.Thr3096= | |
| XM_017009967.1:c.9273A>G | XP_016865456.1:p.Thr3091= | |
| XM_017009968.2:c.9369A>G | XP_016865457.1:p.Thr3123= | |
| XM_017009969.2:c.9369A>G | XP_016865458.1:p.Thr3123= | |
| XM_017009970.2:c.9369A>G | XP_016865459.1:p.Thr3123= | |
| XM_017009971.2:c.9369A>G | XP_016865460.1:p.Thr3123= | |
| XM_017009972.1:c.2487A>G | XP_016865461.1:p.Thr829= | |
| XM_017009973.1:c.2466A>G | XP_016865462.1:p.Thr822= | |
| XM_017009974.2:c.9369A>G | XP_016865463.1:p.Thr3123= | |
| XR_001742802.1:n.2523-821T>C | ||
| NR_003149.2:n.9364A>G |