Revel Score:
ENST00000353963
0.146
ENST00000348729 (MANE Select)
0.146
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001748 (AFR)
Genomes Max Group AF
0.00000802 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139379813C>A , CM000667.2:g.139379813C>A | GRCh38 |
| NC_000005.9:g.138715502C>A , CM000667.1:g.138715502C>A | GRCh37 |
| NC_000005.8:g.138743401C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348729.8:c.790G>T MANE Select | ENSP00000302701.4:p.Val264Leu | |
| ENST00000348729.7:c.790G>T | ENSP00000302701.4:p.Val264Leu | |
| ENST00000353963.7:c.802G>T | ENSP00000302851.5:p.Val268Leu | |
| ENST00000504513.1:c.164+143G>T | ||
| ENST00000506512.1:n.401G>T | ||
| NM_005847.4:c.790G>T | NP_005838.3:p.Val264Leu | |
| NM_152685.3:c.802G>T | NP_689898.2:p.Val268Leu | |
| XM_005272148.3:c.910G>T | XP_005272205.3:p.Val304Leu | |
| XM_005272149.3:c.898G>T | XP_005272206.3:p.Val300Leu | |
| XM_006714741.2:c.910G>T | XP_006714804.2:p.Val304Leu | |
| XM_011543765.1:c.910G>T | XP_011542067.1:p.Val304Leu | |
| XM_011543766.1:c.691G>T | XP_011542068.1:p.Val231Leu | |
| XM_011543767.1:c.595G>T | XP_011542069.1:p.Val199Leu | |
| XM_011543768.1:c.475G>T | XP_011542070.1:p.Val159Leu | |
| XM_011543769.1:c.85G>T | XP_011542071.1:p.Val29Leu | |
| XM_005272149.4:c.898G>T | XP_005272206.3:p.Val300Leu | |
| XM_011543765.2:c.910G>T | XP_011542067.1:p.Val304Leu | |
| NM_005847.5:c.790G>T MANE Select | NP_005838.3:p.Val264Leu | |
| NM_152685.4:c.802G>T | NP_689898.2:p.Val268Leu |