Revel Score:
ENST00000302079
0.703
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005866 (MID)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00006167 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10715678C>T , CM000680.2:g.10715678C>T | GRCh38 |
| NC_000018.9:g.10715676C>T , CM000680.1:g.10715676C>T | GRCh37 |
| NC_000018.8:g.10705676C>T | NCBI36 |
| NG_034005.1:g.438085G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.5129G>A | ENSP00000372900.4:p.Arg1710Gln | |
| ENST00000686869.1:n.5186G>A | ||
| ENST00000674853.1:c.5228G>A MANE Select | ENSP00000501957.1:p.Arg1743Gln | |
| ENST00000302079.10:c.5054G>A | ENSP00000303316.6:p.Arg1685Gln | |
| ENST00000383408.6:c.4907G>A | ENSP00000372900.3:p.Arg1636Gln | |
| ENST00000503781.7:c.5054G>A | ENSP00000421377.3:p.Arg1685Gln | |
| ENST00000580640.5:c.5129G>A | ENSP00000463094.1:p.Arg1710Gln | |
| ENST00000582913.5:c.5095G>A | ENSP00000462115.1:n.5095G>A | |
| NM_022068.3:c.5054G>A | NP_071351.2:p.Arg1685Gln | |
| XM_011525723.1:c.5186G>A | XP_011524025.1:p.Arg1729Gln | |
| XM_011525724.1:c.5129G>A | XP_011524026.1:p.Arg1710Gln | |
| XM_011525725.1:c.5096G>A | XP_011524027.1:p.Arg1699Gln | |
| XM_011525726.1:c.5186G>A | XP_011524028.1:p.Arg1729Gln | |
| XM_011525723.3:c.5186G>A | XP_011524025.1:p.Arg1729Gln | |
| XM_011525724.3:c.5129G>A | XP_011524026.1:p.Arg1710Gln | |
| XM_011525725.3:c.5096G>A | XP_011524027.1:p.Arg1699Gln | |
| XM_011525726.3:c.5186G>A | XP_011524028.1:p.Arg1729Gln | |
| XM_017025918.2:c.5147G>A | XP_016881407.1:p.Arg1716Gln | |
| XR_001753259.2:n.6183G>A | ||
| NM_001378183.1:c.5228G>A MANE Select | NP_001365112.1:p.Arg1743Gln | |
| NM_022068.4:c.5054G>A | NP_071351.2:p.Arg1685Gln |