Revel Score:
ENST00000393752 (MANE Select)
0.815
ENST00000329144
0.815
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.175442902C>G , CM000667.2:g.175442902C>G | GRCh38 |
| NC_000005.9:g.174869905C>G , CM000667.1:g.174869905C>G | GRCh37 |
| NC_000005.8:g.174802511C>G | NCBI36 |
| NG_011802.1:g.6259G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393752.3:c.198G>C MANE Select | ENSP00000377353.1:p.Leu66Phe | |
| ENST00000393752.2:c.198G>C | ENSP00000377353.1:p.Leu66Phe | |
| NM_000794.3:c.198G>C | NP_000785.1:p.Leu66Phe | |
| NM_000794.4:c.198G>C | NP_000785.1:p.Leu66Phe | |
| NM_000794.5:c.198G>C MANE Select | NP_000785.1:p.Leu66Phe |