Revel Score:
ENST00000538666 (MANE Select)
0.430
ENST00000328087
0.430
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68252526A>T , CM000674.2:g.68252526A>T | GRCh38 |
| NC_000012.11:g.68646306A>T , CM000674.1:g.68646306A>T | GRCh37 |
| NC_000012.10:g.66932573A>T | NCBI36 |
| NG_060763.1:g.6079T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328087.6:c.374T>A | ENSP00000329384.4:p.Leu125His | |
| ENST00000538666.6:c.374T>A MANE Select | ENSP00000442424.1:p.Leu125His | |
| ENST00000328087.5:c.374T>A | ENSP00000329384.4:p.Leu125His | |
| ENST00000538666.5:c.374T>A | ENSP00000442424.1:p.Leu125His | |
| NM_020525.4:c.374T>A | NP_065386.1:p.Leu125His | |
| XR_945055.1:n.265-12132A>T | ||
| NM_020525.5:c.374T>A MANE Select | NP_065386.1:p.Leu125His | |
| XR_002957418.1:n.281-12132A>T |