Revel Score:
ENST00000297375 (MANE Select)
0.082
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155458738C>G , CM000669.2:g.155458738C>G | GRCh38 |
| NC_000007.13:g.155251433C>G , CM000669.1:g.155251433C>G | GRCh37 |
| NC_000007.12:g.154944194C>G | NCBI36 |
| NG_007124.1:g.7019C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297375.4:c.361C>G MANE Select | ENSP00000297375.4:p.Leu121Val | |
| NM_001427.3:c.361C>G | NP_001418.2:p.Leu121Val | |
| NM_001427.4:c.361C>G MANE Select | NP_001418.2:p.Leu121Val |