Revel Score:
ENST00000337415
0.138
ENST00000345913
0.138
ENST00000346956
0.138
ENST00000349624
0.138
ENST00000329066 (MANE Select)
0.138
ENST00000382201
0.138
ENST00000382198
0.138
ENST00000422464
0.138
ENST00000469607
0.138
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1496155A>T , CM000664.2:g.1496155A>T | GRCh38 |
| NC_000002.11:g.1499927A>T , CM000664.1:g.1499927A>T | GRCh37 |
| NC_000002.10:g.1478934A>T | NCBI36 |
| NG_011581.1:g.87693A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329066.9:c.2173A>T MANE Select | ENSP00000329869.4:p.Thr725Ser | |
| ENST00000329066.8:c.2173A>T | ENSP00000329869.4:p.Thr725Ser | |
| ENST00000345913.8:c.2173A>T | ENSP00000318820.7:p.Thr725Ser | |
| ENST00000346956.7:c.2173A>T | ENSP00000263886.6:p.Thr725Ser | |
| ENST00000382198.5:c.1654A>T | ENSP00000371633.1:p.Thr552Ser | |
| ENST00000382201.7:c.2002A>T | ENSP00000371636.3:p.Thr668Ser | |
| ENST00000422464.5:c.1960A>T | ENSP00000405788.1:p.Thr654Ser | |
| ENST00000446278.5:c.597A>T | ||
| ENST00000462973.5:n.424+2116A>T | ||
| ENST00000469607.3:c.595A>T | ENSP00000419461.1:p.Thr199Ser | |
| ENST00000497517.6:n.677+2116A>T | ||
| NM_000547.5:c.2173A>T | NP_000538.3:p.Thr725Ser | |
| NM_001206744.1:c.2173A>T | NP_001193673.1:p.Thr725Ser | |
| NM_001206745.1:c.2002A>T | NP_001193674.1:p.Thr668Ser | |
| NM_175719.3:c.2002A>T | NP_783650.1:p.Thr668Ser | |
| NM_175721.3:c.2173A>T | NP_783652.1:p.Thr725Ser | |
| NM_175722.3:c.1654A>T | NP_783653.1:p.Thr552Ser | |
| XM_011510379.1:c.2173A>T | XP_011508681.1:p.Thr725Ser | |
| XM_011510380.1:c.2173A>T | XP_011508682.1:p.Thr725Ser | |
| XM_011510381.1:c.2002A>T | XP_011508683.1:p.Thr668Ser | |
| XR_922681.1:n.2174A>T | ||
| XM_011510380.3:c.2209A>T | XP_011508682.2:p.Thr737Ser | |
| XM_024453085.1:c.2209A>T | XP_024308853.1:p.Thr737Ser | |
| XM_024453086.1:c.2209A>T | XP_024308854.1:p.Thr737Ser | |
| XM_024453087.1:c.2173A>T | XP_024308855.1:p.Thr725Ser | |
| XM_024453088.1:c.2173A>T | XP_024308856.1:p.Thr725Ser | |
| XM_024453089.1:c.2173A>T | XP_024308857.1:p.Thr725Ser | |
| XM_024453090.1:c.2209A>T | XP_024308858.1:p.Thr737Ser | |
| XM_024453091.1:c.2038A>T | XP_024308859.1:p.Thr680Ser | |
| XM_024453092.1:c.2038A>T | XP_024308860.1:p.Thr680Ser | |
| XM_024453093.1:c.1690A>T | XP_024308861.1:p.Thr564Ser | |
| NM_001206744.2:c.2173A>T MANE Select | NP_001193673.1:p.Thr725Ser | |
| NM_000547.6:c.2173A>T | NP_000538.3:p.Thr725Ser | |
| NM_001206745.2:c.2002A>T | NP_001193674.1:p.Thr668Ser | |
| NM_175719.4:c.2002A>T | NP_783650.1:p.Thr668Ser |