Revel Score:
ENST00000285311 (MANE Select)
0.240
ENST00000513208
0.240
ENST00000510463
0.240
gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.106924637C>A , CM000666.2:g.106924637C>A | GRCh38 |
| NC_000004.11:g.107845794C>A , CM000666.1:g.107845794C>A | GRCh37 |
| NC_000004.10:g.108065243C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285311.8:c.437G>T MANE Select | ENSP00000285311.3:p.Arg146Leu | |
| ENST00000285311.7:c.437G>T | ENSP00000285311.3:p.Arg146Leu | |
| ENST00000510463.1:c.299G>T | ENSP00000423797.1:p.Arg100Leu | |
| ENST00000510534.1:n.658G>T | ||
| ENST00000513208.5:c.137G>T | ENSP00000421255.1:p.Arg46Leu | |
| NM_014421.2:c.437G>T | NP_055236.1:p.Arg146Leu | |
| NM_014421.3:c.437G>T MANE Select | NP_055236.1:p.Arg146Leu |