ClinVar RCV:
ClinVar Variation:
Revel Score:
ENST00000423854
0.295
ENST00000350494
0.042
ENST00000358232 (MANE Select)
0.072
ENST00000351393
0.072
ENST00000442325
0.072
ENST00000542824
0.072
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36138426G>T , CM000680.2:g.36138426G>T | GRCh38 |
| NC_000018.9:g.33718389G>T , CM000680.1:g.33718389G>T | GRCh37 |
| NC_000018.8:g.31972387G>T | NCBI36 |
| NG_050745.1:g.13553G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358232.11:c.445G>T MANE Select | ENSP00000350967.6:p.Val149Leu | |
| ENST00000350494.10:c.445G>T | ENSP00000316051.6:p.Val149Phe | |
| ENST00000351393.10:c.445G>T | ENSP00000257191.7:p.Val149Leu | |
| ENST00000358232.10:c.445G>T | ENSP00000350967.6:p.Val149Leu | |
| ENST00000423854.6:c.445G>T | ENSP00000391202.2:p.Gly149Cys | |
| ENST00000442325.6:c.445G>T | ENSP00000414851.2:p.Val149Leu | |
| ENST00000535488.5:n.477G>T | ||
| ENST00000539560.5:c.445G>T | ENSP00000443555.1:p.Val149Leu | |
| ENST00000540135.5:n.476G>T | ||
| ENST00000540323.5:n.332G>T | ||
| ENST00000540730.5:n.209G>T | ||
| ENST00000540799.1:c.288+2049G>T | ENSP00000468091.1:n.288+2049G>T | |
| ENST00000542430.5:c.*57G>T | ENSP00000440774.1:n.*57G>T | |
| ENST00000542824.5:c.445G>T | ENSP00000443800.1:p.Val149Leu | |
| ENST00000543127.5:c.-3G>T | ENSP00000440426.1:n.-3G>T | |
| ENST00000543439.5:n.219G>T | ||
| ENST00000544267.5:c.*210G>T | ENSP00000440516.1:n.*210G>T | |
| ENST00000545632.5:c.*210G>T | ENSP00000438533.1:n.*210G>T | |
| NM_001242875.1:c.445G>T | NP_001229804.1:p.Val149Leu | |
| NM_001242876.1:c.445G>T | NP_001229805.1:p.Val149Phe | |
| NM_001242877.1:c.445G>T | NP_001229806.1:p.Val149Leu | |
| NM_001242878.1:c.445G>T | NP_001229807.1:p.Val149Leu | |
| NM_001242879.1:c.445G>T | NP_001229808.1:p.Gly149Cys | |
| NM_018255.2:c.445G>T | NP_060725.1:p.Val149Leu | |
| NR_040110.1:n.505G>T | ||
| XR_430081.1:n.480G>T | ||
| NM_001242875.2:c.445G>T | NP_001229804.1:p.Val149Leu | |
| NM_001242876.2:c.445G>T | NP_001229805.1:p.Val149Phe | |
| NM_001242877.2:c.445G>T | NP_001229806.1:p.Val149Leu | |
| NM_001242878.2:c.445G>T | NP_001229807.1:p.Val149Leu | |
| NM_001242879.2:c.445G>T | NP_001229808.1:p.Gly149Cys | |
| NM_001324465.1:c.445G>T | NP_001311394.1:p.Val149Leu | |
| NM_001324466.1:c.445G>T | NP_001311395.1:p.Val149Phe | |
| NM_001324467.1:c.445G>T | NP_001311396.1:p.Val149Leu | |
| NM_001324468.1:c.-3G>T | NP_001311397.1:n.-3G>T | |
| NM_018255.3:c.445G>T | NP_060725.1:p.Val149Leu | |
| NR_040110.2:n.505G>T | ||
| NR_136897.1:n.505G>T | ||
| NR_136898.1:n.505G>T | ||
| NR_137173.1:n.505G>T | ||
| XR_430081.2:n.480G>T | ||
| NM_018255.4:c.445G>T MANE Select | NP_060725.1:p.Val149Leu | |
| NM_001242875.3:c.445G>T | NP_001229804.1:p.Val149Leu | |
| NM_001242876.3:c.445G>T | NP_001229805.1:p.Val149Phe | |
| NM_001242877.3:c.445G>T | NP_001229806.1:p.Val149Leu | |
| NM_001242878.3:c.445G>T | NP_001229807.1:p.Val149Leu | |
| NM_001242879.3:c.445G>T | NP_001229808.1:p.Gly149Cys | |
| NM_001324465.2:c.445G>T | NP_001311394.1:p.Val149Leu | |
| NM_001324466.2:c.445G>T | NP_001311395.1:p.Val149Phe | |
| NM_001324467.2:c.445G>T | NP_001311396.1:p.Val149Leu | |
| NM_001324468.2:c.-3G>T | NP_001311397.1:n.-3G>T | |
| NR_040110.3:n.480G>T | ||
| NR_136897.2:n.480G>T | ||
| NR_136898.2:n.480G>T | ||
| NR_137173.2:n.480G>T |