ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00163387 (SAS)
Genomes Max Group AF
0.00048797 (SAS)
Exomes Max Group AF
0.00165206 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151397323T>G , CM000685.2:g.151397323T>G | GRCh38 |
| NC_000023.10:g.150565795T>G , CM000685.1:g.150565795T>G | GRCh37 |
| NC_000023.9:g.150316453T>G | NCBI36 |
| NG_016761.1:g.5139T>G , LRG_860:g.5139T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330374.7:c.15T>G MANE Select | ENSP00000333255.6:p.Asp5Glu | |
| ENST00000330374.6:c.15T>G | ENSP00000333255.6:p.Asp5Glu | |
| ENST00000370361.5:c.218+266T>G | ENSP00000359386.1:n.218+266T>G | |
| ENST00000477649.1:n.133+676T>G | ||
| NM_001017980.3:c.15T>G , LRG_860t1:c.15T>G | NP_001017980.1:p.Asp5Glu | |
| XM_011531125.1:c.218+266T>G | XP_011529427.1:n.218+266T>G | |
| NM_001363810.1:c.218+266T>G | NP_001350739.1:n.218+266T>G | |
| NM_001017980.4:c.15T>G MANE Select | NP_001017980.1:p.Asp5Glu |