Revel Score:
ENST00000265715
0.778
ENST00000544569
0.778
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107694404T>G , CM000669.2:g.107694404T>G | GRCh38 |
| NC_000007.13:g.107334849T>G , CM000669.1:g.107334849T>G | GRCh37 |
| NC_000007.12:g.107122085T>G | NCBI36 |
| NG_008489.1:g.38770T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1265T>G MANE Select | ENSP00000494017.1:p.Val422Gly | |
| ENST00000265715.7:c.1265T>G | ENSP00000265715.3:p.Val422Gly | |
| ENST00000460748.1:n.368T>G | ||
| ENST00000477350.5:n.189-217T>G | ||
| ENST00000480841.5:n.114T>G | ||
| ENST00000497446.5:n.280T>G | ||
| NM_000441.1:c.1265T>G | NP_000432.1:p.Val422Gly | |
| XM_005250425.1:c.1265T>G | XP_005250482.1:p.Val422Gly | |
| XM_005250425.2:c.1265T>G | XP_005250482.1:p.Val422Gly | |
| XM_017012318.1:c.1264-217T>G | XP_016867807.1:n.1264-217T>G | |
| NM_000441.2:c.1265T>G MANE Select | NP_000432.1:p.Val422Gly |