Revel Score:
ENST00000466455
0.554
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58153623G>T , CM000665.2:g.58153623G>T | GRCh38 |
| NC_000003.11:g.58139350G>T , CM000665.1:g.58139350G>T | GRCh37 |
| NC_000003.10:g.58114390G>T | NCBI36 |
| NG_012801.1:g.150224G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682297.1:n.1968G>T | ||
| ENST00000682503.1:n.816G>T | ||
| ENST00000682871.1:c.6496G>T | ENSP00000507805.1:p.Gly2166Ter | |
| ENST00000683114.1:n.1287G>T | ||
| ENST00000684439.1:n.2927G>T | ||
| ENST00000684506.1:c.*5169G>T | ENSP00000507728.1:n.*5169G>T | |
| ENST00000684607.1:c.6637G>T | ENSP00000508224.1:p.Gly2213Ter | |
| ENST00000295956.9:c.6616G>T MANE Select | ENSP00000295956.5:p.Gly2206Ter | |
| ENST00000295956.8:c.6616G>T | ENSP00000295956.4:p.Gly2206Ter | |
| ENST00000358537.7:c.6544G>T | ENSP00000351339.3:p.Gly2182Ter | |
| ENST00000429972.6:c.6583G>T | ENSP00000415599.2:p.Gly2195Ter | |
| ENST00000466455.1:c.386G>T | ||
| ENST00000481470.5:n.2884G>T | ||
| ENST00000490882.5:c.6709G>T | ENSP00000420213.1:p.Gly2237Ter | |
| ENST00000493452.5:c.6037G>T | ENSP00000418510.1:p.Gly2013Ter | |
| NM_001164317.1:c.6709G>T | NP_001157789.1:p.Gly2237Ter | |
| NM_001164318.1:c.6583G>T | NP_001157790.1:p.Gly2195Ter | |
| NM_001164319.1:c.6544G>T | NP_001157791.1:p.Gly2182Ter | |
| NM_001457.3:c.6616G>T | NP_001448.2:p.Gly2206Ter | |
| XM_005264977.1:c.6676G>T | XP_005265034.1:p.Gly2226Ter | |
| XM_005264978.1:c.6637G>T | XP_005265035.1:p.Gly2213Ter | |
| XM_005264978.2:c.6637G>T | XP_005265035.1:p.Gly2213Ter | |
| XR_001740065.1:n.6924G>T | ||
| NM_001164317.2:c.6709G>T | NP_001157789.1:p.Gly2237Ter | |
| NM_001164318.2:c.6583G>T | NP_001157790.1:p.Gly2195Ter | |
| NM_001164319.2:c.6544G>T | NP_001157791.1:p.Gly2182Ter | |
| NM_001457.4:c.6616G>T MANE Select | NP_001448.2:p.Gly2206Ter |