Revel Score:
ENST00000261405 (MANE Select)
0.050
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6034818T>A , CM000674.2:g.6034818T>A | GRCh38 |
| NC_000012.11:g.6143984T>A , CM000674.1:g.6143984T>A | GRCh37 |
| NC_000012.10:g.6014245T>A | NCBI36 |
| NG_009072.2:g.94853A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2555A>T MANE Select | ENSP00000261405.5:p.Gln852Leu | |
| ENST00000261405.9:c.2555A>T | ENSP00000261405.5:p.Gln852Leu | |
| ENST00000538635.5:n.421-40884A>T | ||
| NM_000552.5:c.2555A>T MANE Select | NP_000543.3:p.Gln852Leu |