gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32755719G>A , CM000674.2:g.32755719G>A | GRCh38 |
| NC_000012.11:g.32908653G>A , CM000674.1:g.32908653G>A | GRCh37 |
| NC_000012.10:g.32799920G>A | NCBI36 |
| NG_028122.1:g.5235C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324868.13:c.156C>T MANE Select | ENSP00000320658.8:p.Phe52= | |
| ENST00000324868.12:c.156C>T | ENSP00000320658.8:p.Phe52= | |
| ENST00000548490.1:c.78C>T | ENSP00000447710.1:p.Phe26= | |
| NM_001040436.2:c.156C>T | NP_001035526.1:p.Phe52= | |
| XR_242891.3:n.243C>T | ||
| XR_242892.3:n.243C>T | ||
| XR_429036.1:n.243C>T | ||
| XR_931296.1:n.243C>T | ||
| XR_931297.1:n.243C>T | ||
| XR_931298.1:n.243C>T | ||
| XR_931299.1:n.243C>T | ||
| XR_001748730.2:n.740C>T | ||
| XR_002957331.1:n.740C>T | ||
| XR_242892.5:n.740C>T | ||
| XR_931296.3:n.740C>T | ||
| NM_001040436.3:c.156C>T MANE Select | NP_001035526.1:p.Phe52= |