Revel Score:
ENST00000377474 (MANE Select)
0.083
ENST00000317765
0.083
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76885553T>A , CM000675.2:g.76885553T>A | GRCh38 |
| NC_000013.10:g.77459688T>A , CM000675.1:g.77459688T>A | GRCh37 |
| NC_000013.9:g.76357689T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377474.4:c.596A>T MANE Select | ENSP00000366694.2:p.Gln199Leu | |
| ENST00000377474.3:c.596A>T | ENSP00000366694.2:p.Gln199Leu | |
| NM_138444.3:c.596A>T | NP_612453.1:p.Gln199Leu | |
| NM_138444.4:c.596A>T MANE Select | NP_612453.1:p.Gln199Leu |