ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000877 (SAS)
Exomes Max Group AF
0.00000386 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758692G>A , CM000673.2:g.64758692G>A | GRCh38 |
| NC_000011.9:g.64526164G>A , CM000673.1:g.64526164G>A | GRCh37 |
| NC_000011.8:g.64282740G>A | NCBI36 |
| NG_013018.1:g.7024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.256C>T MANE Select | ENSP00000164139.3:p.Leu86= | |
| ENST00000164139.3:c.256C>T | ENSP00000164139.3:p.Leu86= | |
| ENST00000377432.7:c.244-426C>T | ENSP00000366650.3:n.244-426C>T | |
| NM_001164716.1:c.244-426C>T | NP_001158188.1:n.244-426C>T | |
| NM_005609.2:c.256C>T | NP_005600.1:p.Leu86= | |
| NM_005609.3:c.256C>T | NP_005600.1:p.Leu86= | |
| NM_005609.4:c.256C>T MANE Select | NP_005600.1:p.Leu86= |