ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00076447 (AFR)
Genomes Max Group AF
0.00076691 (AFR)
Exomes Max Group AF
0.0005946 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55023799T>C , CM000685.2:g.55023799T>C | GRCh38 |
| NC_000023.10:g.55050232T>C , CM000685.1:g.55050232T>C | GRCh37 |
| NC_000023.9:g.55066957T>C | NCBI36 |
| NG_008983.1:g.12266A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455688.2:c.157A>G | ENSP00000407204.2:p.Ile53Val | |
| ENST00000477869.6:c.88+919A>G | ENSP00000496725.1:n.88+919A>G | |
| ENST00000493869.2:c.304+919A>G | ENSP00000495713.1:n.304+919A>G | |
| ENST00000644983.1:c.445A>G | ENSP00000495814.1:p.Ile149Val | |
| ENST00000650242.1:c.373A>G MANE Select | ENSP00000497236.1:p.Ile125Val | |
| ENST00000330807.9:c.373A>G | ENSP00000332369.5:p.Ile125Val | |
| ENST00000335854.8:c.304+919A>G | ENSP00000337131.4:n.304+919A>G | |
| ENST00000396198.7:c.376+919A>G | ENSP00000379501.3:n.376+919A>G | |
| ENST00000455688.1:c.228A>G | ||
| ENST00000463868.5:n.355+919A>G | ||
| ENST00000477869.5:n.159+919A>G | ||
| ENST00000493869.1:n.355+919A>G | ||
| NM_000032.4:c.373A>G | NP_000023.2:p.Ile125Val | |
| NM_001037967.3:c.304+919A>G | NP_001033056.1:n.304+919A>G | |
| NM_001037968.3:c.376+919A>G | NP_001033057.1:n.376+919A>G | |
| XM_005261995.2:c.445A>G | XP_005262052.1:p.Ile149Val | |
| XM_011530771.1:c.-224+919A>G | XP_011529073.1:n.-224+919A>G | |
| NM_000032.5:c.373A>G MANE Select | NP_000023.2:p.Ile125Val | |
| NM_001037967.4:c.304+919A>G | NP_001033056.1:n.304+919A>G | |
| NM_001037968.4:c.376+919A>G | NP_001033057.1:n.376+919A>G |