Revel Score:
ENST00000260947 (MANE Select)
0.095
ENST00000432456
0.095
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005433 (AMR)
Exomes Max Group AF
0.00007281 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728855T>C , CM000664.2:g.214728855T>C | GRCh38 |
| NC_000002.11:g.215593579T>C , CM000664.1:g.215593579T>C | GRCh37 |
| NC_000002.10:g.215301824T>C | NCBI36 |
| NG_012047.2:g.85850A>G | |
| NG_012047.3:g.85857A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2155A>G MANE Select | ENSP00000260947.4:p.Thr719Ala | |
| ENST00000421162.2:c.802A>G | ENSP00000392245.2:p.Thr268Ala | |
| ENST00000613192.2:c.*218A>G | ENSP00000483275.2:n.*218A>G | |
| ENST00000613374.5:c.745A>G | ENSP00000484464.1:p.Thr249Ala | |
| ENST00000613706.5:c.1747A>G | ENSP00000484976.2:p.Thr583Ala | |
| ENST00000617164.5:c.2098A>G | ENSP00000480470.1:p.Thr700Ala | |
| ENST00000619009.5:c.616A>G | ENSP00000482293.1:p.Thr206Ala | |
| ENST00000650978.1:c.3530A>G | ||
| ENST00000260947.8:c.2155A>G | ENSP00000260947.4:p.Thr719Ala | |
| ENST00000432456.5:c.298A>G | ||
| ENST00000455743.5:c.*1775A>G | ENSP00000412186.1:n.*1775A>G | |
| ENST00000471590.5:n.490A>G | ||
| ENST00000613192.1:c.325A>G | ENSP00000483275.1:p.Thr109Ala | |
| ENST00000613374.4:c.745A>G | ENSP00000484464.1:p.Thr249Ala | |
| ENST00000613706.4:c.802A>G | ENSP00000484976.1:p.Thr268Ala | |
| ENST00000617164.4:c.2098A>G | ENSP00000480470.1:p.Thr700Ala | |
| ENST00000619009.4:c.616A>G | ENSP00000482293.1:p.Thr206Ala | |
| ENST00000620057.4:c.*821A>G | ENSP00000481988.1:n.*821A>G | |
| NM_000465.3:c.2155A>G | NP_000456.2:p.Thr719Ala | |
| NM_001282543.1:c.2098A>G | NP_001269472.1:p.Thr700Ala | |
| NM_001282545.1:c.802A>G | NP_001269474.1:p.Thr268Ala | |
| NM_001282548.1:c.745A>G | NP_001269477.1:p.Thr249Ala | |
| NM_001282549.1:c.616A>G | NP_001269478.1:p.Thr206Ala | |
| NR_104212.1:n.2148A>G | ||
| NR_104215.1:n.2091A>G | ||
| NR_104216.1:n.1347A>G | ||
| XM_011511567.1:c.2101A>G | XP_011509869.1:p.Thr701Ala | |
| XM_017004613.1:c.2254A>G | XP_016860102.1:p.Thr752Ala | |
| XR_002959322.1:n.2521A>G | ||
| NM_000465.4:c.2155A>G MANE Select | NP_000456.2:p.Thr719Ala | |
| NM_001282543.2:c.2098A>G | NP_001269472.1:p.Thr700Ala | |
| NM_001282545.2:c.802A>G | NP_001269474.1:p.Thr268Ala | |
| NM_001282548.2:c.745A>G | NP_001269477.1:p.Thr249Ala | |
| NM_001282549.2:c.616A>G | NP_001269478.1:p.Thr206Ala | |
| NR_104212.2:n.2120A>G | ||
| NR_104215.2:n.2063A>G | ||
| NR_104216.2:n.1319A>G |