Revel Score:
ENST00000356518 (MANE Select)
0.384
ENST00000379861
0.384
ENST00000350009
0.384
ENST00000360630
0.384
ENST00000444535
0.384
ENST00000439201
0.384
ENST00000358035
0.384
ENST00000322570
0.384
ENST00000339622
0.384
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3675071A>G , CM000682.2:g.3675071A>G | GRCh38 |
| NC_000020.10:g.3655718A>G , CM000682.1:g.3655718A>G | GRCh37 |
| NC_000020.9:g.3603718A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.289T>C MANE Select | ENSP00000348912.3:p.Tyr97His | |
| ENST00000350009.6:c.289T>C | ENSP00000322550.5:p.Tyr97His | |
| ENST00000356518.6:c.289T>C | ENSP00000348912.2:p.Tyr97His | |
| ENST00000379861.8:c.289T>C | ENSP00000369190.4:p.Tyr97His | |
| ENST00000617732.1:c.289T>C | ENSP00000483343.1:p.Tyr97His | |
| ENST00000619289.4:c.289T>C | ENSP00000484600.1:p.Tyr97His | |
| NM_001282447.1:c.289T>C | NP_001269376.1:p.Tyr97His | |
| NM_025220.3:c.289T>C | NP_079496.1:p.Tyr97His | |
| NM_153202.2:c.289T>C | NP_694882.1:p.Tyr97His | |
| XM_005260843.1:c.289T>C | XP_005260900.1:p.Tyr97His | |
| XM_006723639.1:c.289T>C | XP_006723702.1:p.Tyr97His | |
| XM_006723640.1:c.289T>C | XP_006723703.1:p.Tyr97His | |
| XM_006723644.2:c.289T>C | XP_006723707.1:p.Tyr97His | |
| XM_011529366.1:c.286T>C | XP_011527668.1:p.Tyr96His | |
| XM_011529367.1:c.286T>C | XP_011527669.1:p.Tyr96His | |
| XM_011529368.1:c.289T>C | XP_011527670.1:p.Tyr97His | |
| XM_011529369.1:c.289T>C | XP_011527671.1:p.Tyr97His | |
| XM_011529370.1:c.289T>C | XP_011527672.1:p.Tyr97His | |
| XM_011529371.1:c.289T>C | XP_011527673.1:p.Tyr97His | |
| XM_011529372.1:c.289T>C | XP_011527674.1:p.Tyr97His | |
| XM_011529373.1:c.-752T>C | XP_011527675.1:n.-752T>C | |
| XR_937151.1:n.393T>C | ||
| XR_937152.1:n.393T>C | ||
| XR_937153.1:n.393T>C | ||
| XR_937154.1:n.393T>C | ||
| XR_937155.1:n.353T>C | ||
| XR_937157.1:n.393T>C | ||
| NM_001282447.2:c.289T>C | NP_001269376.1:p.Tyr97His | |
| NM_025220.4:c.289T>C | NP_079496.1:p.Tyr97His | |
| NM_153202.3:c.289T>C | NP_694882.1:p.Tyr97His | |
| XM_011529371.2:c.289T>C | XP_011527673.1:p.Tyr97His | |
| XM_011529373.2:c.-752T>C | XP_011527675.1:n.-752T>C | |
| XM_017028080.2:c.289T>C | XP_016883569.1:p.Tyr97His | |
| XM_017028081.2:c.289T>C | XP_016883570.1:p.Tyr97His | |
| XM_017028082.1:c.289T>C | XP_016883571.1:p.Tyr97His | |
| XM_017028083.1:c.289T>C | XP_016883572.1:p.Tyr97His | |
| XR_001754405.1:n.393T>C | ||
| XR_002958534.1:n.393T>C | ||
| NM_001282447.3:c.289T>C | NP_001269376.1:p.Tyr97His | |
| NM_025220.5:c.289T>C MANE Select | NP_079496.1:p.Tyr97His | |
| NM_153202.4:c.289T>C | NP_694882.1:p.Tyr97His |