Revel Score:
ENST00000407977 (MANE Select)
0.239
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58370936C>A , CM000679.2:g.58370936C>A | GRCh38 |
| NC_000017.10:g.56448297C>A , CM000679.1:g.56448297C>A | GRCh37 |
| NC_000017.9:g.53803296C>A | NCBI36 |
| NG_042894.1:g.51647G>T , LRG_1026:g.51647G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407977.7:c.350G>T MANE Select | ENSP00000385328.2:p.Arg117Leu | |
| ENST00000648873.1:c.350G>T | ENSP00000497686.1:p.Arg117Leu | |
| ENST00000407977.6:c.350G>T | ENSP00000385328.2:p.Arg117Leu | |
| ENST00000577625.5:c.-32G>T | ENSP00000463716.1:n.-32G>T | |
| ENST00000577716.5:c.350G>T | ENSP00000462764.1:p.Arg117Leu | |
| ENST00000581868.1:c.-32G>T | ENSP00000462447.1:n.-32G>T | |
| ENST00000583753.5:c.253-7336G>T | ENSP00000462502.1:n.253-7336G>T | |
| ENST00000584437.5:c.350G>T | ENSP00000463069.1:p.Arg117Leu | |
| NM_001305544.1:c.350G>T | NP_001292473.1:p.Arg117Leu | |
| NM_001305545.1:c.-32G>T | NP_001292474.1:n.-32G>T | |
| NM_017763.4:c.350G>T | NP_060233.3:p.Arg117Leu | |
| NM_017763.5:c.350G>T , LRG_1026t1:c.350G>T | NP_060233.3:p.Arg117Leu | |
| XM_011524954.1:c.350G>T | XP_011523256.1:p.Arg117Leu | |
| XM_011524955.1:c.350G>T | XP_011523257.1:p.Arg117Leu | |
| XM_011524956.1:c.-32G>T | XP_011523258.1:n.-32G>T | |
| XM_011524955.3:c.350G>T | XP_011523257.1:p.Arg117Leu | |
| XM_011524956.3:c.-32G>T | XP_011523258.1:n.-32G>T | |
| XM_017024800.2:c.350G>T | XP_016880289.1:p.Arg117Leu | |
| NM_001305544.2:c.350G>T | NP_001292473.1:p.Arg117Leu | |
| NM_017763.6:c.350G>T MANE Select | NP_060233.3:p.Arg117Leu |