Revel Score:
ENST00000489711 (MANE Select)
0.100
ENST00000542599
0.100
ENST00000295605
0.100
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001033 (NFE)
Exomes Max Group AF
0.00001096 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121924957C>G , CM000665.2:g.121924957C>G | GRCh38 |
| NC_000003.11:g.121643804C>G , CM000665.1:g.121643804C>G | GRCh37 |
| NC_000003.10:g.123126494C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489711.6:c.1048C>G MANE Select | ENSP00000417085.1:p.Leu350Val | |
| ENST00000295605.6:c.955C>G | ENSP00000295605.2:p.Leu319Val | |
| ENST00000489711.5:c.1048C>G | ENSP00000417085.1:p.Leu350Val | |
| NM_001145998.1:c.955C>G | NP_001139470.1:p.Leu319Val | |
| NM_021082.3:c.1048C>G | NP_066568.3:p.Leu350Val | |
| XM_005247722.2:c.1048C>G | XP_005247779.1:p.Leu350Val | |
| XM_006713736.2:c.1048C>G | XP_006713799.1:p.Leu350Val | |
| XM_005247722.3:c.1048C>G | XP_005247779.1:p.Leu350Val | |
| XM_006713736.3:c.1048C>G | XP_006713799.1:p.Leu350Val | |
| XM_017007074.1:c.1048C>G | XP_016862563.1:p.Leu350Val | |
| NM_021082.4:c.1048C>G MANE Select | NP_066568.3:p.Leu350Val | |
| NM_001145998.2:c.955C>G | NP_001139470.1:p.Leu319Val |