Revel Score:
ENST00000369409
0.293
ENST00000369407
0.293
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001995 (NFE)
Exomes Max Group AF
0.00002082 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119726868C>T , CM000663.2:g.119726868C>T | GRCh38 |
| NC_000001.10:g.120269491C>T , CM000663.1:g.120269491C>T | GRCh37 |
| NC_000001.9:g.120071014C>T | NCBI36 |
| NG_009188.1:g.20073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.374C>T | ENSP00000358417.5:p.Thr125Met | |
| ENST00000462324.2:n.457C>T | ||
| ENST00000641023.2:c.374C>T MANE Select | ENSP00000493175.1:p.Thr125Met | |
| ENST00000641074.1:c.374C>T | ENSP00000493446.1:p.Thr125Met | |
| ENST00000641115.1:c.374C>T | ENSP00000493264.1:p.Thr125Met | |
| ENST00000641213.1:c.*27C>T | ENSP00000493079.1:n.*27C>T | |
| ENST00000641247.1:c.*93C>T | ENSP00000492955.1:n.*93C>T | |
| ENST00000641272.1:c.308C>T | ENSP00000493432.1:p.Thr103Met | |
| ENST00000641314.1:n.359C>T | ||
| ENST00000641371.1:c.288C>T | ENSP00000493305.1:p.Asp96= | |
| ENST00000641375.1:c.*210C>T | ENSP00000493089.1:n.*210C>T | |
| ENST00000641491.1:c.*27C>T | ENSP00000493187.1:n.*27C>T | |
| ENST00000641513.1:c.*118C>T | ENSP00000493398.1:n.*118C>T | |
| ENST00000641570.1:c.*93C>T | ENSP00000493213.1:n.*93C>T | |
| ENST00000641573.1:n.462C>T | ||
| ENST00000641587.1:c.*85C>T | ENSP00000493453.1:n.*85C>T | |
| ENST00000641597.1:c.374C>T | ENSP00000493382.1:p.Thr125Met | |
| ENST00000641711.1:n.598C>T | ||
| ENST00000641756.1:c.*118C>T | ENSP00000493147.1:n.*118C>T | |
| ENST00000641811.1:c.130C>T | ||
| ENST00000641847.1:n.233C>T | ||
| ENST00000641891.1:c.*200C>T | ENSP00000493288.1:n.*200C>T | |
| ENST00000641927.1:n.314C>T | ||
| ENST00000641947.1:c.374C>T | ENSP00000492994.1:p.Thr125Met | |
| ENST00000642021.1:n.496C>T | ||
| ENST00000642041.1:c.*413C>T | ENSP00000493415.1:n.*413C>T | |
| ENST00000369407.3:c.272C>T | ENSP00000358415.3:p.Thr91Met | |
| ENST00000369409.8:c.374C>T | ENSP00000358417.4:p.Thr125Met | |
| ENST00000462324.1:n.642C>T | ||
| ENST00000493622.5:n.563C>T | ||
| NM_006623.3:c.374C>T | NP_006614.2:p.Thr125Met | |
| XM_011541226.1:c.596C>T | XP_011539528.1:p.Thr199Met | |
| XM_011541227.1:c.518C>T | XP_011539529.1:p.Thr173Met | |
| XM_011541228.1:c.485C>T | XP_011539530.1:p.Thr162Met | |
| XM_011541229.1:c.311C>T | XP_011539531.1:p.Thr104Met | |
| XM_011541230.1:c.89C>T | XP_011539532.1:p.Thr30Met | |
| XM_011541231.1:c.80C>T | XP_011539533.1:p.Thr27Met | |
| XM_011541226.2:c.596C>T | XP_011539528.1:p.Thr199Met | |
| XM_011541227.2:c.518C>T | XP_011539529.1:p.Thr173Met | |
| XM_011541228.2:c.485C>T | XP_011539530.1:p.Thr162Met | |
| XM_011541231.2:c.80C>T | XP_011539533.1:p.Thr27Met | |
| XM_024446338.1:c.485C>T | XP_024302106.1:p.Thr162Met | |
| NM_006623.4:c.374C>T MANE Select | NP_006614.2:p.Thr125Met |