Revel Score:
ENST00000294304 (MANE Select)
0.410
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68386660G>T , CM000673.2:g.68386660G>T | GRCh38 |
| NC_000011.9:g.68154128G>T , CM000673.1:g.68154128G>T | GRCh37 |
| NC_000011.8:g.67910704G>T | NCBI36 |
| NG_015835.1:g.79021G>T | |
| NG_015835.2:g.79021G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.1360G>T MANE Select | ENSP00000294304.6:p.Val454Leu | |
| ENST00000294304.11:c.1360G>T | ENSP00000294304.6:p.Val454Leu | |
| ENST00000529993.5:c.1360G>T | ENSP00000436652.1:p.Val454Leu | |
| NM_001291902.1:c.-406G>T | NP_001278831.1:n.-406G>T | |
| NM_002335.3:c.1360G>T | NP_002326.2:p.Val454Leu | |
| XM_005273994.2:c.1360G>T | XP_005274051.1:p.Val454Leu | |
| XM_011545029.1:c.1387G>T | XP_011543331.1:p.Val463Leu | |
| XM_011545030.1:c.1387G>T | XP_011543332.1:p.Val463Leu | |
| XM_011545031.1:c.1387G>T | XP_011543333.1:p.Val463Leu | |
| XR_949925.1:n.1402G>T | ||
| XR_949926.1:n.1402G>T | ||
| XR_001747874.1:n.1402G>T | ||
| XR_949925.2:n.1402G>T | ||
| XR_949926.2:n.1402G>T | ||
| NM_002335.4:c.1360G>T MANE Select | NP_002326.2:p.Val454Leu | |
| NM_001291902.2:c.-406G>T | NP_001278831.1:n.-406G>T |