Revel Score:
ENST00000335508 (MANE Select)
0.875
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197402759C>T , CM000664.2:g.197402759C>T | GRCh38 |
| NC_000002.11:g.198267483C>T , CM000664.1:g.198267483C>T | GRCh37 |
| NC_000002.10:g.197975728C>T | NCBI36 |
| NG_032903.2:g.37289G>A , LRG_624:g.37289G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335508.11:c.1874G>A MANE Select | ENSP00000335321.6:p.Arg625His | |
| ENST00000470268.2:n.3758G>A | ||
| ENST00000652026.1:c.*2941G>A | ENSP00000498652.1:n.*2941G>A | |
| ENST00000652738.1:c.*2133G>A | ENSP00000499119.1:n.*2133G>A | |
| ENST00000335508.10:c.1874G>A | ENSP00000335321.5:p.Arg625His | |
| NM_012433.2:c.1874G>A | NP_036565.2:p.Arg625His | |
| NM_012433.3:c.1874G>A , LRG_624t2:c.1874G>A | NP_036565.2:p.Arg625His | |
| XM_011510867.1:c.1436G>A | XP_011509169.1:p.Arg479His | |
| XM_011510868.1:c.1436G>A | XP_011509170.1:p.Arg479His | |
| XR_241300.2:n.1966G>A | ||
| XR_001738680.2:n.1919G>A | ||
| NM_012433.4:c.1874G>A MANE Select | NP_036565.2:p.Arg625His |