gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318543G>A , CM000677.2:g.89318543G>A | GRCh38 |
| NC_000015.9:g.89861774G>A , CM000677.1:g.89861774G>A | GRCh37 |
| NC_000015.8:g.87662778G>A | NCBI36 |
| NG_008218.1:g.21253C>T | |
| NG_011736.1:g.79581G>A , LRG_500:g.79581G>A | |
| NG_008218.2:g.21253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3480C>T | ENSP00000516154.1:p.Thr1160= | |
| ENST00000268124.11:c.3480C>T MANE Select | ENSP00000268124.5:p.Thr1160= | |
| ENST00000530292.3:c.3081C>T | ENSP00000432885.2:p.Thr1027= | |
| ENST00000635986.2:c.*550C>T | ENSP00000490653.2:n.*550C>T | |
| ENST00000636774.1:c.*2047C>T | ENSP00000489799.1:n.*2047C>T | |
| ENST00000637238.1:c.2289C>T | ENSP00000490756.1:n.2289C>T | |
| ENST00000637264.1:c.2552C>T | ||
| ENST00000666746.1:c.3057C>T | ||
| ENST00000672071.1:n.3678C>T | ||
| ENST00000672695.1:n.657C>T | ||
| ENST00000672923.2:n.3480C>T | ||
| ENST00000268124.9:c.3480C>T | ENSP00000268124.5:p.Thr1160= | |
| ENST00000442287.6:c.3480C>T | ENSP00000399851.2:p.Thr1160= | |
| ENST00000530292.2:c.564C>T | ENSP00000432885.1:p.Thr188= | |
| ENST00000631044.2:c.*2904C>T | ENSP00000486730.1:n.*2904C>T | |
| NM_001126131.1:c.3480C>T | NP_001119603.1:p.Thr1160= | |
| NM_002693.2:c.3480C>T | NP_002684.1:p.Thr1160= | |
| NM_001126131.2:c.3480C>T | NP_001119603.1:p.Thr1160= | |
| NM_002693.3:c.3480C>T MANE Select | NP_002684.1:p.Thr1160= |