Linked Data
ClinVar Variation Id:
385428
dbSNP Id:
rs142368721
ExAC:
5:52899333 A / G
gnomAD v2:
5-52899333-A-G
gnomAD v3:
5-53603503-A-G
gnomAD v4:
5-53603503-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53603503A>G , CM000667.2:g.53603503A>G | GRCh38 |
| NC_000005.9:g.52899333A>G , CM000667.1:g.52899333A>G | GRCh37 |
| NC_000005.8:g.52935090A>G | NCBI36 |
| NG_008200.1:g.47869A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.150A>G MANE Select | ENSP00000296684.5:p.Thr50= | |
| ENST00000296684.9:c.150A>G | ENSP00000296684.5:p.Thr50= | |
| ENST00000502423.5:c.150A>G | ENSP00000422177.1:p.Thr50= | |
| ENST00000506765.1:c.138A>G | ENSP00000424570.1:p.Thr46= | |
| ENST00000506974.5:c.150A>G | ENSP00000425967.1:p.Thr50= | |
| ENST00000507026.5:c.*124A>G | ENSP00000424993.1:n.*124A>G | |
| NM_002495.2:c.150A>G | NP_002486.1:p.Thr50= | |
| XM_005248525.3:c.150A>G | XP_005248582.1:p.Thr50= | |
| XM_011543414.1:c.150A>G | XP_011541716.1:p.Thr50= | |
| XM_011543415.1:c.-197A>G | XP_011541717.1:n.-197A>G | |
| NM_001318051.1:c.150A>G | NP_001304980.1:p.Thr50= | |
| NM_002495.3:c.150A>G | NP_002486.1:p.Thr50= | |
| NR_134473.1:n.180A>G | ||
| NR_134474.1:n.180A>G | ||
| NR_134475.1:n.304A>G | ||
| XM_017009491.1:c.150A>G | XP_016864980.1:p.Thr50= | |
| NM_002495.4:c.150A>G MANE Select | NP_002486.1:p.Thr50= | |
| NM_001318051.2:c.150A>G | NP_001304980.1:p.Thr50= | |
| NR_134473.2:n.174A>G | ||
| NR_134474.2:n.174A>G | ||
| NR_134475.2:n.298A>G |