Revel Score:
ENST00000407721
0.984
ENST00000355527 (MANE Select)
0.984
ENST00000533800
0.984
ENST00000525137
0.984
ENST00000534795
0.866
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71437868C>A , CM000673.2:g.71437868C>A | GRCh38 |
| NC_000011.9:g.71148914C>A , CM000673.1:g.71148914C>A | GRCh37 |
| NC_000011.8:g.70826562C>A | NCBI36 |
| NG_012655.2:g.15564G>T , LRG_340:g.15564G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.907G>T | ENSP00000435707.3:p.Gly303Trp | |
| ENST00000526780.6:c.907G>T | ENSP00000435668.2:p.Gly303Trp | |
| ENST00000527316.6:c.733G>T | ENSP00000435047.2:p.Gly245Trp | |
| ENST00000682708.1:c.958G>T | ENSP00000506866.1:p.Gly320Trp | |
| ENST00000682880.1:c.907G>T | ENSP00000507520.1:p.Gly303Trp | |
| ENST00000683287.1:c.943G>T | ENSP00000507607.1:p.Gly315Trp | |
| ENST00000683714.1:c.907G>T | ENSP00000508207.1:p.Gly303Trp | |
| ENST00000684396.1:n.947G>T | ||
| ENST00000685320.1:c.322G>T | ENSP00000509319.1:p.Gly108Trp | |
| ENST00000690257.1:c.811G>T | ENSP00000510750.1:p.Gly271Trp | |
| ENST00000355527.8:c.907G>T MANE Select | ENSP00000347717.4:p.Gly303Trp | |
| ENST00000355527.7:c.907G>T | ENSP00000347717.3:p.Gly303Trp | |
| ENST00000407721.6:c.907G>T | ENSP00000384739.2:p.Gly303Trp | |
| ENST00000525137.1:c.274G>T | ENSP00000435956.1:p.Gly92Trp | |
| ENST00000533800.5:c.157G>T | ENSP00000435011.1:p.Gly53Trp | |
| ENST00000534795.5:c.263G>T | ||
| NM_001163817.1:c.907G>T | NP_001157289.1:p.Gly303Trp | |
| NM_001360.2:c.907G>T , LRG_340t1:c.907G>T | NP_001351.2:p.Gly303Trp | |
| XM_011544777.1:c.907G>T | XP_011543079.1:p.Gly303Trp | |
| XM_011544777.2:c.907G>T | XP_011543079.1:p.Gly303Trp | |
| NM_001163817.2:c.907G>T | NP_001157289.1:p.Gly303Trp | |
| NM_001360.3:c.907G>T MANE Select | NP_001351.2:p.Gly303Trp |