Revel Score:
ENST00000448525
0.274
ENST00000262318
0.274
ENST00000382745 (MANE Select)
0.274
ENST00000428756
0.274
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1452856C>A , CM000678.2:g.1452856C>A | GRCh38 |
| NC_000016.9:g.1502857C>A , CM000678.1:g.1502857C>A | GRCh37 |
| NC_000016.8:g.1442858C>A | NCBI36 |
| NG_007567.1:g.27229G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699947.1:c.1252G>T | ENSP00000514703.1:p.Val418Leu | |
| ENST00000699948.1:c.1252G>T | ENSP00000514704.1:p.Val418Leu | |
| ENST00000382745.9:c.1252G>T MANE Select | ENSP00000372193.4:p.Val418Leu | |
| ENST00000262318.12:c.1180G>T | ENSP00000262318.8:p.Val394Leu | |
| ENST00000382745.8:c.1252G>T | ENSP00000372193.4:p.Val418Leu | |
| ENST00000448525.5:c.1180G>T | ENSP00000410907.1:p.Val394Leu | |
| NM_001114331.2:c.1180G>T | NP_001107803.1:p.Val394Leu | |
| NM_001287.5:c.1252G>T | NP_001278.1:p.Val418Leu | |
| XM_011522354.1:c.1078G>T | XP_011520656.1:p.Val360Leu | |
| NM_001287.6:c.1252G>T MANE Select | NP_001278.1:p.Val418Leu | |
| NM_001114331.3:c.1180G>T | NP_001107803.1:p.Val394Leu |