Revel Score:
ENST00000266483 (MANE Select)
0.302
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.34026832G>T , CM000674.2:g.34026832G>T | GRCh38 |
| NC_000012.11:g.34179767G>T , CM000674.1:g.34179767G>T | GRCh37 |
| NC_000012.10:g.34071034G>T | NCBI36 |
| NG_016389.1:g.9552G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266483.7:c.1339G>T MANE Select | ENSP00000266483.2:p.Val447Phe | |
| ENST00000266483.6:c.1339G>T | ENSP00000266483.2:p.Val447Phe | |
| ENST00000538927.1:c.369+2673G>T | ENSP00000444084.1:n.369+2673G>T | |
| ENST00000541875.1:c.*1079G>T | ENSP00000443142.1:n.*1079G>T | |
| NM_032834.3:c.1339G>T | NP_116223.3:p.Val447Phe | |
| XM_024449230.1:c.1159G>T | XP_024304998.1:p.Val387Phe | |
| XM_024449231.1:c.1159G>T | XP_024304999.1:p.Val387Phe | |
| NM_032834.4:c.1339G>T MANE Select | NP_116223.3:p.Val447Phe |