gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013424 (MID)
Genomes Max Group AF
0.00003763 (NFE)
Exomes Max Group AF
0.00014149 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.823577G>A , CM000673.2:g.823577G>A | GRCh38 |
| NC_000011.9:g.823577G>A , CM000673.1:g.823577G>A | GRCh37 |
| NC_000011.8:g.813577G>A | NCBI36 |
| NG_023394.1:g.9677G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.747G>A MANE Select | ENSP00000337701.4:p.Leu249= | |
| ENST00000336615.8:c.747G>A | ENSP00000337701.4:p.Leu249= | |
| ENST00000525250.5:n.1353G>A | ||
| ENST00000529255.1:n.35G>A | ||
| ENST00000617551.1:c.-504G>A | ENSP00000481602.1:n.-504G>A | |
| NM_020376.3:c.747G>A | NP_065109.1:p.Leu249= | |
| XM_006718265.2:c.747G>A | XP_006718328.1:p.Leu249= | |
| XM_006718266.2:c.747G>A | XP_006718329.1:p.Leu249= | |
| XM_006718265.3:c.747G>A | XP_006718328.1:p.Leu249= | |
| XM_006718266.3:c.747G>A | XP_006718329.1:p.Leu249= | |
| XM_017018028.1:c.747G>A | XP_016873517.1:p.Leu249= | |
| XM_024448618.1:c.747G>A | XP_024304386.1:p.Leu249= | |
| NM_020376.4:c.747G>A MANE Select | NP_065109.1:p.Leu249= |