Revel Score:
ENST00000302079
0.284
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000128 (NFE)
Exomes Max Group AF
0.00000136 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10736621G>C , CM000680.2:g.10736621G>C | GRCh38 |
| NC_000018.9:g.10736619G>C , CM000680.1:g.10736619G>C | GRCh37 |
| NC_000018.8:g.10726619G>C | NCBI36 |
| NG_034005.1:g.417142C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.4798C>G | ENSP00000372900.4:p.Arg1600Gly | |
| ENST00000686869.1:n.4855C>G | ||
| ENST00000674853.1:c.4798C>G MANE Select | ENSP00000501957.1:p.Arg1600Gly | |
| ENST00000302079.10:c.4723C>G | ENSP00000303316.6:p.Arg1575Gly | |
| ENST00000383408.6:c.4576C>G | ENSP00000372900.3:p.Arg1526Gly | |
| ENST00000503781.7:c.4723C>G | ENSP00000421377.3:p.Arg1575Gly | |
| ENST00000580640.5:c.4798C>G | ENSP00000463094.1:p.Arg1600Gly | |
| ENST00000582913.5:c.4764C>G | ENSP00000462115.1:n.4764C>G | |
| NM_022068.3:c.4723C>G | NP_071351.2:p.Arg1575Gly | |
| XM_011525723.1:c.4855C>G | XP_011524025.1:p.Arg1619Gly | |
| XM_011525724.1:c.4798C>G | XP_011524026.1:p.Arg1600Gly | |
| XM_011525725.1:c.4765C>G | XP_011524027.1:p.Arg1589Gly | |
| XM_011525726.1:c.4855C>G | XP_011524028.1:p.Arg1619Gly | |
| XM_011525727.1:c.4855C>G | XP_011524029.1:p.Arg1619Gly | |
| XM_011525723.3:c.4855C>G | XP_011524025.1:p.Arg1619Gly | |
| XM_011525724.3:c.4798C>G | XP_011524026.1:p.Arg1600Gly | |
| XM_011525725.3:c.4765C>G | XP_011524027.1:p.Arg1589Gly | |
| XM_011525726.3:c.4855C>G | XP_011524028.1:p.Arg1619Gly | |
| XM_017025918.2:c.4816C>G | XP_016881407.1:p.Arg1606Gly | |
| XR_001753259.2:n.5852C>G | ||
| NM_001378183.1:c.4798C>G MANE Select | NP_001365112.1:p.Arg1600Gly | |
| NM_022068.4:c.4723C>G | NP_071351.2:p.Arg1575Gly |