Revel Score:
ENST00000411851
0.397
ENST00000375190 (MANE Select)
0.397
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3600456C>T , CM000681.2:g.3600456C>T | GRCh38 |
| NC_000019.9:g.3600454C>T , CM000681.1:g.3600454C>T | GRCh37 |
| NC_000019.8:g.3551454C>T | NCBI36 |
| NG_013363.1:g.11378G>A , LRG_578:g.11378G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.179G>A MANE Select | ENSP00000364336.4:p.Arg60His | |
| ENST00000375190.8:c.179G>A | ENSP00000364336.3:p.Arg60His | |
| ENST00000411851.3:c.179G>A | ENSP00000393333.2:p.Arg60His | |
| ENST00000589966.1:c.179G>A | ENSP00000468145.1:p.Arg60His | |
| NM_001060.5:c.179G>A , LRG_578t1:c.179G>A | NP_001051.1:p.Arg60His | |
| NM_201636.2:c.179G>A | NP_963998.2:p.Arg60His | |
| XM_011528214.1:c.179G>A | XP_011526516.1:p.Arg60His | |
| XM_011528214.2:c.179G>A | XP_011526516.1:p.Arg60His | |
| NM_001060.6:c.179G>A MANE Select | NP_001051.1:p.Arg60His | |
| NM_201636.3:c.179G>A | NP_963998.2:p.Arg60His |