Revel Score:
ENST00000264595 (MANE Select)
0.825
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442288C>A , CM000666.2:g.177442288C>A | GRCh38 |
| NC_000004.11:g.178363442C>A , CM000666.1:g.178363442C>A | GRCh37 |
| NC_000004.10:g.178600436C>A | NCBI36 |
| NG_011845.2:g.5216G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.88G>T MANE Select | ENSP00000264595.2:p.Val30Phe | |
| ENST00000264595.6:c.88G>T | ENSP00000264595.2:p.Val30Phe | |
| ENST00000506853.5:n.122G>T | ||
| ENST00000510955.5:n.122G>T | ||
| ENST00000511231.1:n.122G>T | ||
| NM_000027.3:c.88G>T | NP_000018.2:p.Val30Phe | |
| NM_001171988.1:c.88G>T | NP_001165459.1:p.Val30Phe | |
| NR_033655.1:n.216G>T | ||
| XM_006714123.2:c.88G>T | XP_006714186.1:p.Val30Phe | |
| XR_001741155.2:n.182G>T | ||
| NM_000027.4:c.88G>T MANE Select | NP_000018.2:p.Val30Phe | |
| NM_001171988.2:c.88G>T | NP_001165459.1:p.Val30Phe | |
| NR_033655.2:n.150G>T |