gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00024484 (NFE)
Genomes Max Group AF
0.00015873 (NFE)
Exomes Max Group AF
0.00024541 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55346379C>T , CM000666.2:g.55346379C>T | GRCh38 |
| NC_000004.11:g.56212546C>T , CM000666.1:g.56212546C>T | GRCh37 |
| NC_000004.10:g.55907303C>T | NCBI36 |
| NG_028230.1:g.5159C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.43C>T MANE Select | ENSP00000264228.4:p.Leu15= | |
| ENST00000679351.1:c.43C>T | ENSP00000505676.1:p.Leu15= | |
| ENST00000679707.1:c.43C>T | ENSP00000505713.1:p.Leu15= | |
| ENST00000679836.1:c.43C>T | ENSP00000506601.1:p.Leu15= | |
| ENST00000680700.1:c.43C>T | ENSP00000504926.1:p.Leu15= | |
| ENST00000264228.8:c.43C>T | ENSP00000264228.4:p.Leu15= | |
| NM_024592.4:c.43C>T | NP_078868.1:p.Leu15= | |
| XM_005265766.2:c.43C>T | XP_005265823.1:p.Leu15= | |
| XM_005265767.2:c.43C>T | XP_005265824.1:p.Leu15= | |
| XM_005265766.4:c.43C>T | XP_005265823.1:p.Leu15= | |
| XM_005265767.3:c.43C>T | XP_005265824.1:p.Leu15= | |
| NM_024592.5:c.43C>T MANE Select | NP_078868.1:p.Leu15= |