Revel Score:
ENST00000373103
0.035
ENST00000440588
0.035
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1517592 (AFR)
Genomes Max Group AF
0.14802408 (AFR)
Exomes Max Group AF
0.15423 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36466902C>T , CM000663.2:g.36466902C>T | GRCh38 |
| NC_000001.10:g.36932503C>T , CM000663.1:g.36932503C>T | GRCh37 |
| NC_000001.9:g.36705090C>T | NCBI36 |
| NG_016270.1:g.21007G>A , LRG_144:g.21007G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464465.7:c.1939-75G>A | ENSP00000435218.2:n.1939-75G>A | |
| ENST00000487540.7:c.*335-75G>A | ENSP00000514169.2:n.*335-75G>A | |
| ENST00000699089.1:n.3021-75G>A | ||
| ENST00000699090.1:c.1645-75G>A | ENSP00000514168.1:n.1645-75G>A | |
| ENST00000373106.6:c.2041-75G>A MANE Select | ENSP00000362198.2:n.2041-75G>A | |
| ENST00000331941.6:c.2041-75G>A | ENSP00000332180.5:n.2041-75G>A | |
| ENST00000361632.8:c.2041-75G>A | ENSP00000355406.4:n.2041-75G>A | |
| ENST00000373103.5:c.2047G>A | ENSP00000362195.1:p.Gly683Arg | |
| ENST00000373104.5:c.2041-75G>A | ENSP00000362196.1:n.2041-75G>A | |
| ENST00000373106.5:c.2041-75G>A | ENSP00000362198.1:n.2041-75G>A | |
| ENST00000464465.6:c.696-75G>A | ||
| ENST00000480825.6:n.5216G>A | ||
| ENST00000484762.1:n.432-75G>A | ||
| ENST00000487540.6:n.1222-75G>A | ||
| NM_000760.3:c.2041-75G>A | NP_000751.1:n.2041-75G>A | |
| NM_156039.3:c.2047G>A , LRG_144t1:c.2047G>A | NP_724781.1:p.Gly683Arg | |
| NM_172313.2:c.2041-75G>A | NP_758519.1:n.2041-75G>A | |
| XM_005270493.1:c.2038-75G>A | XP_005270550.1:n.2038-75G>A | |
| XM_011540748.1:c.2047G>A | XP_011539050.1:p.Gly683Arg | |
| XM_011540749.1:c.2044G>A | XP_011539051.1:p.Gly682Arg | |
| XM_011540750.1:c.1375G>A | XP_011539052.1:p.Gly459Arg | |
| XM_011540748.3:c.2047G>A | XP_011539050.1:p.Gly683Arg | |
| XM_017000370.1:c.2047G>A | XP_016855859.1:p.Gly683Arg | |
| NM_000760.4:c.2041-75G>A MANE Select | NP_000751.1:n.2041-75G>A | |
| NM_172313.3:c.2041-75G>A | NP_758519.1:n.2041-75G>A |