Revel Score:
ENST00000262367 (MANE Select)
0.827
ENST00000543883
0.827
ENST00000382070
0.827
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3757288C>A , CM000678.2:g.3757288C>A | GRCh38 |
| NC_000016.9:g.3807289C>A , CM000678.1:g.3807289C>A | GRCh37 |
| NC_000016.8:g.3747290C>A | NCBI36 |
| NG_009873.1:g.127833G>T | |
| NG_009873.2:g.128426G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.3698G>T MANE Select | ENSP00000262367.5:p.Arg1233Met | |
| ENST00000262367.9:c.3698G>T | ENSP00000262367.5:p.Arg1233Met | |
| ENST00000382070.7:c.3584G>T | ENSP00000371502.3:p.Arg1195Met | |
| ENST00000570939.2:c.2303G>T | ENSP00000461002.2:p.Ser768Ile | |
| ENST00000573517.6:c.4G>T | ||
| NM_001079846.1:c.3584G>T | NP_001073315.1:p.Arg1195Met | |
| NM_004380.2:c.3698G>T | NP_004371.2:p.Arg1233Met | |
| XM_005255124.3:c.3653G>T | XP_005255181.1:p.Arg1218Met | |
| XM_005255125.3:c.3281G>T | XP_005255182.1:p.Arg1094Met | |
| XM_006720848.2:c.3698G>T | XP_006720911.1:p.Arg1233Met | |
| XM_011522380.1:c.3644G>T | XP_011520682.1:p.Arg1215Met | |
| XM_011522381.1:c.2945G>T | XP_011520683.1:p.Arg982Met | |
| XM_011522382.1:c.3698G>T | XP_011520684.1:p.Arg1233Met | |
| XM_005255124.4:c.3653G>T | XP_005255181.1:p.Arg1218Met | |
| XM_005255125.4:c.3281G>T | XP_005255182.1:p.Arg1094Met | |
| XM_006720848.3:c.3698G>T | XP_006720911.1:p.Arg1233Met | |
| XM_011522381.2:c.2945G>T | XP_011520683.1:p.Arg982Met | |
| XM_011522382.3:c.3698G>T | XP_011520684.1:p.Arg1233Met | |
| XM_017022944.1:c.3692G>T | XP_016878433.1:p.Arg1231Met | |
| NM_004380.3:c.3698G>T MANE Select | NP_004371.2:p.Arg1233Met |