gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001114 (NFE)
Exomes Max Group AF
0.000011 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81928578A>G , CM000678.2:g.81928578A>G | GRCh38 |
| NC_000016.9:g.81962183A>G , CM000678.1:g.81962183A>G | GRCh37 |
| NC_000016.8:g.80519684A>G | NCBI36 |
| NG_032019.2:g.194482A>G , LRG_376:g.194482A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570198.2:n.1653A>G | ||
| ENST00000697562.1:c.*1395A>G | ENSP00000513338.1:n.*1395A>G | |
| ENST00000697563.1:c.*2381A>G | ENSP00000513339.1:n.*2381A>G | |
| ENST00000697564.1:c.2418A>G | ENSP00000513340.1:p.Leu806= | |
| ENST00000697581.1:c.*2529A>G | ENSP00000513346.1:n.*2529A>G | |
| ENST00000697582.1:c.2535A>G | ENSP00000513347.1:p.Leu845= | |
| ENST00000697583.1:c.2334A>G | ENSP00000513349.1:p.Leu778= | |
| ENST00000697584.1:c.2334A>G | ENSP00000513350.1:p.Leu778= | |
| ENST00000697585.1:c.2334A>G | ENSP00000513351.1:p.Leu778= | |
| ENST00000697586.1:c.2334A>G | ENSP00000513352.1:p.Leu778= | |
| ENST00000697587.1:c.2334A>G | ENSP00000513353.1:p.Leu778= | |
| ENST00000564138.6:c.2535A>G MANE Select | ENSP00000482457.1:p.Leu845= | |
| ENST00000359376.7:c.2535A>G | ENSP00000352336.4:p.Leu845= | |
| ENST00000564138.5:c.2535A>G | ENSP00000482457.1:p.Leu845= | |
| ENST00000570196.1:n.298A>G | ||
| NM_002661.4:c.2535A>G | NP_002652.2:p.Leu845= | |
| XM_011523108.1:c.2649A>G | XP_011521410.1:p.Leu883= | |
| NM_002661.5:c.2535A>G MANE Select | NP_002652.2:p.Leu845= |