Revel Score:
ENST00000349264
0.129
ENST00000544417
0.129
ENST00000396754
0.129
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711577G>T , CM000677.2:g.44711577G>T | GRCh38 |
| NC_000015.9:g.45003775G>T , CM000677.1:g.45003775G>T | GRCh37 |
| NC_000015.8:g.42791067G>T | NCBI36 |
| NG_012920.1:g.5091G>T | |
| NG_012920.2:g.5101G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.83+137G>T | ||
| ENST00000648006.3:c.31G>T MANE Select | ENSP00000497910.1:p.Ala11Ser | |
| ENST00000349264.10:c.31G>T | ENSP00000340858.6:p.Ala11Ser | |
| ENST00000544417.5:c.31G>T | ENSP00000437604.2:p.Ala11Ser | |
| ENST00000557901.5:c.31G>T | ENSP00000452861.1:p.Ala11Ser | |
| ENST00000558401.5:c.31G>T | ENSP00000452780.1:p.Ala11Ser | |
| ENST00000559720.5:n.91G>T | ||
| ENST00000559916.1:c.31G>T | ENSP00000453350.1:p.Ala11Ser | |
| ENST00000561424.5:c.31G>T | ENSP00000453191.1:p.Ala11Ser | |
| NM_004048.2:c.31G>T | NP_004039.1:p.Ala11Ser | |
| XM_005254549.2:c.31G>T | XP_005254606.1:p.Ala11Ser | |
| NM_004048.3:c.31G>T | NP_004039.1:p.Ala11Ser | |
| XM_005254549.3:c.31G>T | XP_005254606.1:p.Ala11Ser | |
| XR_002957658.1:n.86G>T | ||
| NM_004048.4:c.31G>T MANE Select | NP_004039.1:p.Ala11Ser |