gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002991 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00002827 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89649934G>A , CM000677.2:g.89649934G>A | GRCh38 |
| NC_000015.9:g.90193165G>A , CM000677.1:g.90193165G>A | GRCh37 |
| NC_000015.8:g.87994169G>A | NCBI36 |
| NG_030338.1:g.10518C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.459C>T | ENSP00000512678.1:p.Leu153= | |
| ENST00000394412.8:c.336C>T MANE Select | ENSP00000377934.3:p.Leu112= | |
| ENST00000394412.7:c.336C>T | ENSP00000377934.3:p.Leu112= | |
| ENST00000445906.1:c.439C>T | ENSP00000395906.1:p.Pro147Ser | |
| NM_198525.2:c.336C>T | NP_940927.2:p.Leu112= | |
| XM_005254902.2:c.336C>T | XP_005254959.1:p.Leu112= | |
| XM_011521531.1:c.459C>T | XP_011519833.1:p.Leu153= | |
| XM_011521532.1:c.459C>T | XP_011519834.1:p.Leu153= | |
| XM_011521533.1:c.459C>T | XP_011519835.1:p.Leu153= | |
| XM_011521534.1:c.459C>T | XP_011519836.1:p.Leu153= | |
| XM_011521535.1:c.459C>T | XP_011519837.1:p.Leu153= | |
| XM_011521536.1:c.459C>T | XP_011519838.1:p.Leu153= | |
| XM_011521537.1:c.459C>T | XP_011519839.1:p.Leu153= | |
| XM_011521531.2:c.459C>T | XP_011519833.1:p.Leu153= | |
| NM_198525.3:c.336C>T MANE Select | NP_940927.2:p.Leu112= |