Revel Score:
ENST00000285071 (MANE Select)
0.275
ENST00000389169
0.275
ENST00000417064
0.275
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002233 (NFE)
Exomes Max Group AF
0.00002285 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17223936C>T , CM000679.2:g.17223936C>T | GRCh38 |
| NC_000017.10:g.17127250C>T , CM000679.1:g.17127250C>T | GRCh37 |
| NC_000017.9:g.17067975C>T | NCBI36 |
| NG_008001.2:g.18253G>A , LRG_325:g.18253G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285071.9:c.604G>A MANE Select | ENSP00000285071.4:p.Gly202Ser | |
| ENST00000285071.8:c.604G>A | ENSP00000285071.4:p.Gly202Ser | |
| ENST00000389169.9:c.604G>A | ENSP00000373821.5:p.Gly202Ser | |
| ENST00000417064.1:c.445G>A | ENSP00000410410.1:p.Gly149Ser | |
| ENST00000427497.3:c.148+4054G>A | ENSP00000394249.3:n.148+4054G>A | |
| ENST00000480316.1:n.570G>A | ||
| NM_144606.5:c.604G>A | NP_653207.1:p.Gly202Ser | |
| NM_144997.5:c.604G>A , LRG_325t1:c.604G>A | NP_659434.2:p.Gly202Ser | |
| XM_011523714.1:c.658G>A | XP_011522016.1:p.Gly220Ser | |
| XM_011523715.1:c.658G>A | XP_011522017.1:p.Gly220Ser | |
| XM_011523716.1:c.658G>A | XP_011522018.1:p.Gly220Ser | |
| XM_011523717.1:c.658G>A | XP_011522019.1:p.Gly220Ser | |
| XM_011523718.1:c.658G>A | XP_011522020.1:p.Gly220Ser | |
| XM_011523719.1:c.658G>A | XP_011522021.1:p.Gly220Ser | |
| XM_011523720.1:c.397-1275G>A | XP_011522022.1:n.397-1275G>A | |
| XM_011523721.1:c.658G>A | XP_011522023.1:p.Gly220Ser | |
| XR_934007.1:n.1998G>A | ||
| NM_001353229.1:c.658G>A | NP_001340158.1:p.Gly220Ser | |
| NM_001353230.1:c.604G>A | NP_001340159.1:p.Gly202Ser | |
| NM_001353231.1:c.604G>A | NP_001340160.1:p.Gly202Ser | |
| NM_144606.6:c.604G>A | NP_653207.1:p.Gly202Ser | |
| NM_144997.6:c.604G>A | NP_659434.2:p.Gly202Ser | |
| XM_011523714.3:c.658G>A | XP_011522016.1:p.Gly220Ser | |
| XM_011523718.3:c.658G>A | XP_011522020.1:p.Gly220Ser | |
| XM_011523719.3:c.658G>A | XP_011522021.1:p.Gly220Ser | |
| XM_011523721.3:c.658G>A | XP_011522023.1:p.Gly220Ser | |
| XM_017024305.2:c.658G>A | XP_016879794.1:p.Gly220Ser | |
| XM_017024308.1:c.604G>A | XP_016879797.1:p.Gly202Ser | |
| XM_017024309.2:c.397-1275G>A | XP_016879798.1:n.397-1275G>A | |
| XM_024450635.1:c.658G>A | XP_024306403.1:p.Gly220Ser | |
| XR_001752445.2:n.1162G>A | ||
| NM_144997.7:c.604G>A MANE Select | NP_659434.2:p.Gly202Ser | |
| NM_001353229.2:c.658G>A | NP_001340158.1:p.Gly220Ser | |
| NM_001353230.2:c.604G>A | NP_001340159.1:p.Gly202Ser | |
| NM_001353231.2:c.604G>A | NP_001340160.1:p.Gly202Ser | |
| NM_144606.7:c.604G>A | NP_653207.1:p.Gly202Ser |