Revel Score:
ENST00000261405 (MANE Select)
0.708
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019222C>A , CM000674.2:g.6019222C>A | GRCh38 |
| NC_000012.11:g.6128388C>A , CM000674.1:g.6128388C>A | GRCh37 |
| NC_000012.10:g.5998649C>A | NCBI36 |
| NG_009072.1:g.110449G>T | |
| NG_009072.2:g.110449G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.4196G>T MANE Select | ENSP00000261405.5:p.Arg1399Leu | |
| ENST00000261405.9:c.4196G>T | ENSP00000261405.5:p.Arg1399Leu | |
| ENST00000538635.5:n.421-25288G>T | ||
| NM_000552.3:c.4196G>T | NP_000543.2:p.Arg1399Leu | |
| NM_000552.4:c.4196G>T | NP_000543.2:p.Arg1399Leu | |
| NM_000552.5:c.4196G>T MANE Select | NP_000543.3:p.Arg1399Leu |