Linked Data
ClinVar Variation Id:
46375
dbSNP Id:
rs373352597
ExAC:
5:89990142 A / G
gnomAD v2:
5-89990142-A-G
gnomAD v3:
5-90694325-A-G
gnomAD v4:
5-90694325-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90694325A>G , CM000667.2:g.90694325A>G | GRCh38 |
| NC_000005.9:g.89990142A>G , CM000667.1:g.89990142A>G | GRCh37 |
| NC_000005.8:g.90025898A>G | NCBI36 |
| NG_007083.1:g.140526A>G | |
| NG_007083.2:g.169982A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.7569A>G MANE Select | ENSP00000384582.2:p.Thr2523= | |
| ENST00000639431.1:c.265+18116A>G | ENSP00000491057.1:n.265+18116A>G | |
| ENST00000639473.1:n.3028A>G | ||
| ENST00000640012.1:c.1376A>G | ||
| ENST00000640374.1:n.713A>G | ||
| ENST00000640403.1:c.4860A>G | ENSP00000492531.1:p.Thr1620= | |
| ENST00000640779.1:c.2298A>G | ||
| ENST00000405460.6:c.7569A>G | ENSP00000384582.2:p.Thr2523= | |
| ENST00000509621.1:c.266A>G | ||
| NM_032119.3:c.7569A>G | NP_115495.3:p.Thr2523= | |
| NR_003149.1:n.7582A>G | ||
| XM_011543675.1:c.7566A>G | XP_011541977.1:p.Thr2522= | |
| XM_011543676.1:c.7488A>G | XP_011541978.1:p.Thr2496= | |
| XM_011543677.1:c.4872A>G | XP_011541979.1:p.Thr1624= | |
| XM_011543678.1:c.7569A>G | XP_011541980.1:p.Thr2523= | |
| XM_011543679.1:c.7569A>G | XP_011541981.1:p.Thr2523= | |
| NM_032119.4:c.7569A>G MANE Select | NP_115495.3:p.Thr2523= | |
| XM_017009963.2:c.7569A>G | XP_016865452.1:p.Thr2523= | |
| XM_017009964.2:c.7566A>G | XP_016865453.1:p.Thr2522= | |
| XM_017009965.1:c.7566A>G | XP_016865454.1:p.Thr2522= | |
| XM_017009966.2:c.7488A>G | XP_016865455.1:p.Thr2496= | |
| XM_017009967.1:c.7473A>G | XP_016865456.1:p.Thr2491= | |
| XM_017009968.2:c.7569A>G | XP_016865457.1:p.Thr2523= | |
| XM_017009969.2:c.7569A>G | XP_016865458.1:p.Thr2523= | |
| XM_017009970.2:c.7569A>G | XP_016865459.1:p.Thr2523= | |
| XM_017009971.2:c.7569A>G | XP_016865460.1:p.Thr2523= | |
| XM_017009972.1:c.687A>G | XP_016865461.1:p.Thr229= | |
| XM_017009973.1:c.687A>G | XP_016865462.1:p.Thr229= | |
| XM_017009974.2:c.7569A>G | XP_016865463.1:p.Thr2523= | |
| NR_003149.2:n.7585A>G |