gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00010062 (SAS)
Exomes Max Group AF
0.00010711 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32753932G>A , CM000674.2:g.32753932G>A | GRCh38 |
| NC_000012.11:g.32906866G>A , CM000674.1:g.32906866G>A | GRCh37 |
| NC_000012.10:g.32798133G>A | NCBI36 |
| NG_028122.1:g.7022C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324868.13:c.933C>T MANE Select | ENSP00000320658.8:p.Asp311= | |
| ENST00000324868.12:c.933C>T | ENSP00000320658.8:p.Asp311= | |
| ENST00000548490.1:c.855C>T | ENSP00000447710.1:p.Asp285= | |
| NM_001040436.2:c.933C>T | NP_001035526.1:p.Asp311= | |
| XR_242891.3:n.1020C>T | ||
| XR_242892.3:n.1020C>T | ||
| XR_429036.1:n.1020C>T | ||
| XR_931296.1:n.1020C>T | ||
| XR_931297.1:n.1020C>T | ||
| XR_931298.1:n.1020C>T | ||
| XR_931299.1:n.1020C>T | ||
| XR_001748730.2:n.1517C>T | ||
| XR_002957331.1:n.1517C>T | ||
| XR_242892.5:n.1517C>T | ||
| XR_931296.3:n.1517C>T | ||
| NM_001040436.3:c.933C>T MANE Select | NP_001035526.1:p.Asp311= |