Revel Score:
ENST00000368087 (MANE Select)
0.825
ENST00000356962
0.825
ENST00000476845
0.825
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003472 (AFR)
Genomes Max Group AF
0.0000192 (AFR)
Exomes Max Group AF
0.00002375 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583862G>A , CM000668.2:g.131583862G>A | GRCh38 |
| NC_000006.11:g.131905002G>A , CM000668.1:g.131905002G>A | GRCh37 |
| NC_000006.10:g.131946695G>A | NCBI36 |
| NG_007086.2:g.15638G>A | |
| NG_031860.1:g.49362C>T | |
| NG_031860.2:g.49362C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368087.8:c.923G>A (ARG1) MANE Select | ENSP00000357066.3:p.Arg308Gln | |
| ENST00000640973.1:c.665G>A (ARG1) | ENSP00000492623.1:p.Arg222Gln | |
| ENST00000672233.1:c.869G>A (ARG1) | ENSP00000499826.1:p.Arg290Gln | |
| ENST00000673234.1:c.*810G>A (ARG1) | ENSP00000499885.1:n.*810G>A | |
| ENST00000673427.1:c.668G>A (ARG1) | ENSP00000500160.1:p.Arg223Gln | |
| ENST00000354577.8:c.4095+3847C>T (MED23) | ENSP00000346588.4:n.4095+3847C>T | |
| ENST00000356962.2:c.947G>A (ARG1) | ENSP00000349446.2:p.Arg316Gln | |
| ENST00000368087.7:c.923G>A (ARG1) | ENSP00000357066.3:p.Arg308Gln | |
| NM_000045.3:c.923G>A (ARG1) | NP_000036.2:p.Arg308Gln | |
| NM_001244438.1:c.947G>A (ARG1) | NP_001231367.1:p.Arg316Gln | |
| NM_001270521.1:c.4077+3847C>T (MED23) | NP_001257450.1:n.4077+3847C>T | |
| NM_015979.3:c.4095+3847C>T (MED23) | NP_057063.2:n.4095+3847C>T | |
| XM_011535801.1:c.668G>A (ARG1) | XP_011534103.1:p.Arg223Gln | |
| XM_011535801.2:c.668G>A (ARG1) | XP_011534103.1:p.Arg223Gln | |
| NM_000045.4:c.923G>A (ARG1) MANE Select | NP_000036.2:p.Arg308Gln | |
| NM_001244438.2:c.947G>A (ARG1) | NP_001231367.1:p.Arg316Gln | |
| NM_001270521.2:c.4077+3847C>T (MED23) | NP_001257450.1:n.4077+3847C>T | |
| NM_001369020.1:c.668G>A (ARG1) | NP_001355949.1:p.Arg223Gln | |
| NM_015979.4:c.4095+3847C>T (MED23) | NP_057063.2:n.4095+3847C>T | |
| NR_160934.1:n.907G>A (ARG1) |