gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45914199G>A , CM000673.2:g.45914199G>A | GRCh38 |
| NC_000011.9:g.45935750G>A , CM000673.1:g.45935750G>A | GRCh37 |
| NC_000011.8:g.45892326G>A | NCBI36 |
| NG_008460.1:g.8925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.699C>T MANE Select | ENSP00000368024.5:p.Leu233= | |
| ENST00000241041.7:c.699C>T | ENSP00000241041.3:p.Leu233= | |
| ENST00000378750.9:c.699C>T | ENSP00000368024.5:p.Leu233= | |
| ENST00000525192.5:c.414C>T | ENSP00000431309.1:p.Leu138= | |
| ENST00000532554.5:n.470C>T | ||
| ENST00000532681.5:c.414C>T | ENSP00000434654.1:p.Leu138= | |
| ENST00000533151.5:c.387C>T | ENSP00000433045.1:p.Leu129= | |
| NM_004813.2:c.699C>T | NP_004804.1:p.Leu233= | |
| NM_057174.2:c.699C>T | NP_476515.1:p.Leu233= | |
| XM_011520474.1:c.576C>T | XP_011518776.1:p.Leu192= | |
| NM_004813.3:c.699C>T | NP_004804.1:p.Leu233= | |
| NM_004813.4:c.699C>T MANE Select | NP_004804.2:p.Leu233= | |
| NM_057174.3:c.699C>T | NP_476515.2:p.Leu233= |