Revel Score:
ENST00000344876 (MANE Select)
0.414
ENST00000412923
0.414
ENST00000507846
0.414
ENST00000510305
0.414
ENST00000511115
0.414
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005803 (MID)
Exomes Max Group AF
0.0000183 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.137521586C>A , CM000666.2:g.137521586C>A | GRCh38 |
| NC_000004.11:g.138442740C>A , CM000666.1:g.138442740C>A | GRCh37 |
| NC_000004.10:g.138662190C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344876.9:c.2851G>T MANE Select | ENSP00000355082.4:p.Gly951Trp | |
| ENST00000344876.8:c.2851G>T | ENSP00000355082.4:p.Gly951Trp | |
| ENST00000412923.6:c.2848G>T | ENSP00000390688.2:p.Gly950Trp | |
| ENST00000507846.5:c.2188G>T | ENSP00000425903.1:p.Gly730Trp | |
| ENST00000510305.5:c.484G>T | ENSP00000424269.1:p.Gly162Trp | |
| ENST00000511115.5:c.391G>T | ENSP00000425647.1:p.Gly131Trp | |
| ENST00000611581.1:c.*105G>T | ENSP00000478176.1:n.*105G>T | |
| ENST00000620262.1:n.474G>T | ||
| NM_001300828.1:c.2848G>T | NP_001287757.1:p.Gly950Trp | |
| NM_019035.4:c.2851G>T | NP_061908.1:p.Gly951Trp | |
| XM_017008311.1:c.*105G>T | XP_016863800.1:n.*105G>T | |
| NM_001300828.2:c.2848G>T | NP_001287757.1:p.Gly950Trp | |
| NM_019035.5:c.2851G>T MANE Select | NP_061908.1:p.Gly951Trp |