gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00194336 (NFE)
Genomes Max Group AF
0.00141321 (NFE)
Exomes Max Group AF
0.00196242 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32842231G>A , CM000681.2:g.32842231G>A | GRCh38 |
| NC_000019.9:g.33333137G>A , CM000681.1:g.33333137G>A | GRCh37 |
| NC_000019.8:g.38024977G>A | NCBI36 |
| NG_008258.1:g.32547C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000023064.9:c.1161C>T MANE Select | ENSP00000023064.3:p.Gly387= | |
| ENST00000023064.8:c.1161C>T | ENSP00000023064.3:p.Gly387= | |
| ENST00000587772.1:c.1161C>T | ENSP00000468439.1:p.Gly387= | |
| ENST00000590341.5:c.1161C>T | ENSP00000464822.1:p.Gly387= | |
| ENST00000590465.5:c.*1308C>T | ENSP00000468076.1:n.*1308C>T | |
| ENST00000592232.5:c.*570C>T | ENSP00000465563.1:n.*570C>T | |
| NM_001126335.1:c.1161C>T | NP_001119807.1:p.Gly387= | |
| NM_001243036.1:c.1161C>T | NP_001229965.1:p.Gly387= | |
| NM_014270.4:c.1161C>T | NP_055085.1:p.Gly387= | |
| XM_006722992.1:c.480C>T | XP_006723055.1:p.Gly160= | |
| XM_011526402.1:c.1161C>T | XP_011524704.1:p.Gly387= | |
| XM_011526402.3:c.1161C>T | XP_011524704.1:p.Gly387= | |
| XM_017026230.1:c.897C>T | XP_016881719.1:p.Gly299= | |
| XM_024451334.1:c.534C>T | XP_024307102.1:p.Gly178= | |
| NM_014270.5:c.1161C>T MANE Select | NP_055085.1:p.Gly387= | |
| NM_001126335.2:c.1161C>T | NP_001119807.1:p.Gly387= | |
| NM_001243036.2:c.1161C>T | NP_001229965.1:p.Gly387= |