Revel Score:
ENST00000468300
0.271
ENST00000357654 (MANE Select)
0.533
ENST00000412061
0.533
ENST00000354071
0.533
ENST00000352993
0.533
ENST00000346315
0.533
ENST00000351666
0.533
ENST00000309486
0.533
ENST00000393691
0.533
ENST00000471181
0.533
ENST00000493795
0.533
ENST00000491747
0.533
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045792C>A , CM000679.2:g.43045792C>A | GRCh38 |
| NC_000017.10:g.41197809C>A , CM000679.1:g.41197809C>A | GRCh37 |
| NC_000017.9:g.38451335C>A | NCBI36 |
| NG_005905.2:g.172192G>T , LRG_292:g.172192G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5475G>T | ENSP00000417241.2:p.Gln1825His | |
| ENST00000470026.6:c.5478G>T | ENSP00000419274.2:p.Gln1826His | |
| ENST00000473961.6:c.5352G>T | ENSP00000420201.2:p.Gln1784His | |
| ENST00000476777.6:c.5472G>T | ENSP00000417554.2:p.Gln1824His | |
| ENST00000477152.6:c.5400G>T | ENSP00000419988.2:p.Gln1800His | |
| ENST00000478531.6:c.2166G>T | ENSP00000420412.2:p.Gln722His | |
| ENST00000489037.2:c.5400G>T | ENSP00000420781.2:p.Gln1800His | |
| ENST00000493919.6:c.2028G>T | ENSP00000418819.2:p.Gln676His | |
| ENST00000494123.6:c.5478G>T | ENSP00000419103.2:p.Gln1826His | |
| ENST00000497488.2:c.4590G>T | ENSP00000418986.2:p.Gln1530His | |
| ENST00000618469.2:c.5478G>T | ENSP00000478114.2:p.Gln1826His | |
| ENST00000634433.2:c.5355G>T | ENSP00000489431.2:p.Gln1785His | |
| ENST00000644379.2:c.5544G>T | ENSP00000496570.2:p.Gln1848His | |
| ENST00000644555.2:c.2028G>T | ENSP00000494614.2:p.Gln676His | |
| ENST00000652672.2:c.5337G>T | ENSP00000498906.2:p.Gln1779His | |
| ENST00000484087.6:c.2040G>T | ENSP00000419481.2:p.Gln680His | |
| ENST00000700081.1:n.1361G>T | ||
| ENST00000700082.1:n.842G>T | ||
| ENST00000357654.9:c.5478G>T MANE Select | ENSP00000350283.3:p.Gln1826His | |
| ENST00000471181.7:c.5541G>T | ENSP00000418960.2:p.Gln1847His | |
| ENST00000644379.1:c.1865G>T | ||
| ENST00000352993.7:c.2052G>T | ENSP00000312236.5:p.Gln684His | |
| ENST00000357654.7:c.5478G>T | ENSP00000350283.3:p.Gln1826His | |
| ENST00000461221.5:c.*5261G>T | ENSP00000418548.1:n.*5261G>T | |
| ENST00000468300.5:c.2092G>T | ENSP00000417148.1:p.Asp698Tyr | |
| ENST00000471181.6:c.5541G>T | ENSP00000418960.2:p.Gln1847His | |
| ENST00000491747.6:c.2166G>T | ENSP00000420705.2:p.Gln722His | |
| ENST00000493795.5:c.5337G>T | ENSP00000418775.1:p.Gln1779His | |
| ENST00000586385.5:c.408G>T | ENSP00000465818.1:p.Gln136His | |
| ENST00000591534.5:c.951G>T | ENSP00000467329.1:p.Gln317His | |
| ENST00000591849.5:c.177G>T | ENSP00000465347.1:p.Gln59His | |
| NM_007294.3:c.5478G>T , LRG_292t1:c.5478G>T | NP_009225.1:p.Gln1826His | |
| NM_007297.3:c.5337G>T | NP_009228.2:p.Gln1779His | |
| NM_007298.3:c.2166G>T | NP_009229.2:p.Gln722His | |
| NM_007299.3:c.2092G>T | NP_009230.2:p.Asp698Tyr | |
| NM_007300.3:c.5541G>T | NP_009231.2:p.Gln1847His | |
| NR_027676.1:n.5614G>T | ||
| NM_007294.4:c.5478G>T MANE Select | NP_009225.1:p.Gln1826His | |
| NM_007297.4:c.5337G>T | NP_009228.2:p.Gln1779His | |
| NM_007299.4:c.2092G>T | NP_009230.2:p.Asp698Tyr | |
| NM_007300.4:c.5541G>T | NP_009231.2:p.Gln1847His | |
| NR_027676.2:n.5655G>T |