Revel Score:
ENST00000456970
0.186
ENST00000205557 (MANE Select)
0.609
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Exomes Max Group AF
0.00000931 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16175934C>A , CM000678.2:g.16175934C>A | GRCh38 |
| NC_000016.9:g.16269791C>A , CM000678.1:g.16269791C>A | GRCh37 |
| NC_000016.8:g.16177292C>A | NCBI36 |
| NG_007558.2:g.52538G>T | |
| NG_007558.3:g.52684G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2643G>T | ENSP00000483331.2:p.Arg881Ser | |
| ENST00000205557.12:c.2643G>T MANE Select | ENSP00000205557.7:p.Arg881Ser | |
| ENST00000205557.11:c.2643G>T | ENSP00000205557.7:p.Arg881Ser | |
| ENST00000456970.6:c.2468G>T | ENSP00000405002.2:p.Gly823Val | |
| ENST00000576683.1:n.130G>T | ||
| ENST00000622290.4:c.2468G>T | ENSP00000483331.1:p.Gly823Val | |
| NM_001171.5:c.2643G>T | NP_001162.4:p.Arg881Ser | |
| XM_011522479.1:c.2610G>T | XP_011520781.1:p.Arg870Ser | |
| XM_011522480.1:c.2301G>T | XP_011520782.1:p.Arg767Ser | |
| XM_011522481.1:c.2301G>T | XP_011520783.1:p.Arg767Ser | |
| XM_011522482.1:c.2650G>T | XP_011520784.1:p.Glu884Ter | |
| XR_932836.1:n.2878G>T | ||
| XR_932837.1:n.2879G>T | ||
| XR_932838.1:n.2879G>T | ||
| NM_001351800.1:c.2301G>T | NP_001338729.1:p.Arg767Ser | |
| NR_147784.1:n.2505G>T | ||
| XM_011522479.2:c.2610G>T | XP_011520781.1:p.Arg870Ser | |
| XM_011522481.3:c.2301G>T | XP_011520783.1:p.Arg767Ser | |
| XM_011522482.3:c.2650G>T | XP_011520784.1:p.Glu884Ter | |
| XM_017023212.1:c.2475G>T | XP_016878701.1:p.Arg825Ser | |
| XM_017023214.1:c.2643G>T | XP_016878703.1:p.Arg881Ser | |
| XM_024450261.1:c.2679G>T | XP_024306029.1:p.Arg893Ser | |
| XR_932836.2:n.2824G>T | ||
| XR_932837.3:n.2824G>T | ||
| XR_932838.3:n.2824G>T | ||
| NM_001171.6:c.2643G>T MANE Select | NP_001162.5:p.Arg881Ser |