gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47291088G>A , CM000679.2:g.47291088G>A | GRCh38 |
| NC_000017.10:g.45368454G>A , CM000679.1:g.45368454G>A | GRCh37 |
| NC_000017.9:g.42723453G>A | NCBI36 |
| NG_008332.2:g.42247G>A , LRG_481:g.42247G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.1260G>A | ENSP00000513002.1:p.Thr420= | |
| ENST00000559488.7:c.1260G>A MANE Select | ENSP00000452786.2:p.Thr420= | |
| ENST00000559488.5:c.1260G>A | ENSP00000452786.1:p.Thr420= | |
| ENST00000560629.1:c.1225G>A | ||
| ENST00000571680.1:c.1260G>A | ENSP00000461626.1:p.Thr420= | |
| ENST00000573377.1:c.36G>A | ENSP00000465586.1:p.Thr12= | |
| NM_000212.2:c.1260G>A , LRG_481t1:c.1260G>A | NP_000203.2:p.Thr420= | |
| NM_000212.3:c.1260G>A MANE Select | NP_000203.2:p.Thr420= |