ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00426783 (EAS)
Genomes Max Group AF
0.00256068 (EAS)
Exomes Max Group AF
0.0043496 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103399822T>G , CM000673.2:g.103399822T>G | GRCh38 |
| NC_000011.9:g.103270550T>G , CM000673.1:g.103270550T>G | GRCh37 |
| NC_000011.8:g.102775760T>G | NCBI36 |
| NG_016423.1:g.295391T>G | |
| NG_016423.2:g.295392T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.12337T>G MANE Plus Clinical | ENSP00000497174.1:p.Leu4113Val | |
| ENST00000375735.7:c.12316T>G MANE Select | ENSP00000364887.2:p.Leu4106Val | |
| ENST00000650373.1:c.12337T>G | ENSP00000497174.1:p.Leu4113Val | |
| ENST00000334267.11:c.2206-36121T>G | ENSP00000334021.7:n.2206-36121T>G | |
| ENST00000375735.6:c.12316T>G | ENSP00000364887.2:p.Leu4106Val | |
| ENST00000398093.7:c.12337T>G | ENSP00000381167.3:p.Leu4113Val | |
| ENST00000528670.5:c.1499T>G | ENSP00000433451.1:n.1499T>G | |
| ENST00000533197.1:c.118-36121T>G | ENSP00000436736.1:n.118-36121T>G | |
| NM_001080463.1:c.12337T>G | NP_001073932.1:p.Leu4113Val | |
| NM_001377.2:c.12316T>G | NP_001368.2:p.Leu4106Val | |
| XM_006718903.2:c.12295T>G | XP_006718966.1:p.Leu4099Val | |
| XM_017018291.1:c.12157-36121T>G | XP_016873780.1:n.12157-36121T>G | |
| XM_017018292.1:c.11698T>G | XP_016873781.1:p.Leu3900Val | |
| NM_001377.3:c.12316T>G MANE Select | NP_001368.2:p.Leu4106Val | |
| NM_001080463.2:c.12337T>G MANE Plus Clinical | NP_001073932.1:p.Leu4113Val |