gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Genomes Max Group AF
0.000008 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128485944C>T , CM000665.2:g.128485944C>T | GRCh38 |
| NC_000003.11:g.128204787C>T , CM000665.1:g.128204787C>T | GRCh37 |
| NC_000003.10:g.129687477C>T | NCBI36 |
| NG_029334.1:g.12244G>A , LRG_295:g.12244G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.654G>A MANE Plus Clinical | ENSP00000417074.1:p.Thr218= | |
| ENST00000696466.1:c.936G>A | ENSP00000512647.1:p.Thr312= | |
| ENST00000341105.7:c.654G>A MANE Select | ENSP00000345681.2:p.Thr218= | |
| ENST00000341105.6:c.654G>A | ENSP00000345681.2:p.Thr218= | |
| ENST00000430265.6:c.654G>A | ENSP00000400259.2:p.Thr218= | |
| ENST00000487848.5:c.654G>A | ENSP00000417074.1:p.Thr218= | |
| NM_001145661.1:c.654G>A , LRG_295t1:c.654G>A | NP_001139133.1:p.Thr218= | |
| NM_001145662.1:c.654G>A | NP_001139134.1:p.Thr218= | |
| NM_032638.4:c.654G>A , LRG_295t2:c.654G>A | NP_116027.2:p.Thr218= | |
| NM_001145661.2:c.654G>A MANE Plus Clinical | NP_001139133.1:p.Thr218= | |
| NM_032638.5:c.654G>A MANE Select | NP_116027.2:p.Thr218= |