Revel Score:
ENST00000333590 (MANE Select)
0.666
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15331701C>T , CM000685.2:g.15331701C>T | GRCh38 |
| NC_000023.10:g.15349823C>T , CM000685.1:g.15349823C>T | GRCh37 |
| NC_000023.9:g.15259744C>T | NCBI36 |
| NG_009786.1:g.8838G>A , LRG_160:g.8838G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.230G>A MANE Select | ENSP00000369820.3:p.Arg77Gln | |
| ENST00000637296.1:c.-315+173G>A | ENSP00000490545.1:n.-315+173G>A | |
| ENST00000637626.1:c.230G>A | ENSP00000489928.1:p.Arg77Gln | |
| ENST00000638131.1:c.111+119G>A | ENSP00000490483.1:n.111+119G>A | |
| ENST00000333590.5:c.230G>A | ENSP00000369820.3:p.Arg77Gln | |
| ENST00000474662.2:n.142+173G>A | ||
| ENST00000482148.6:c.230G>A | ENSP00000489528.1:p.Arg77Gln | |
| ENST00000542278.6:c.230G>A | ENSP00000442653.2:p.Arg77Gln | |
| ENST00000634286.1:c.23G>A | ENSP00000489491.1:p.Arg8Gln | |
| ENST00000634582.1:c.13+3800G>A | ENSP00000489540.1:n.13+3800G>A | |
| ENST00000634640.1:c.-231+173G>A | ENSP00000489083.1:n.-231+173G>A | |
| ENST00000635045.1:n.315G>A | ||
| ENST00000635543.1:c.230G>A | ENSP00000489205.1:p.Arg77Gln | |
| ENST00000635598.1:c.230G>A | ENSP00000489207.1:p.Arg77Gln | |
| NM_002641.3:c.230G>A , LRG_160t1:c.230G>A | NP_002632.1:p.Arg77Gln | |
| NM_020473.3:c.13+3800G>A | NP_065206.3:n.13+3800G>A | |
| NR_033835.1:n.346G>A | ||
| NR_033836.1:n.173+173G>A | ||
| NM_002641.4:c.230G>A MANE Select | NP_002632.1:p.Arg77Gln |