gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583449C>T , CM000673.2:g.2583449C>T | GRCh38 |
| NC_000011.9:g.2604679C>T , CM000673.1:g.2604679C>T | GRCh37 |
| NC_000011.8:g.2561255C>T | NCBI36 |
| NG_008935.1:g.143459C>T , LRG_287:g.143459C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.675C>T | ENSP00000434560.2:p.Thr225= | |
| ENST00000646564.2:c.492C>T | ENSP00000495806.2:p.Thr164= | |
| ENST00000155840.12:c.936C>T MANE Select | ENSP00000155840.2:p.Thr312= | |
| ENST00000335475.6:c.555C>T | ENSP00000334497.5:p.Thr185= | |
| ENST00000646564.1:c.138C>T | ENSP00000495806.1:p.Thr46= | |
| ENST00000155840.9:c.936C>T | ENSP00000155840.2:p.Thr312= | |
| ENST00000335475.5:c.555C>T | ENSP00000334497.5:p.Thr185= | |
| NM_000218.2:c.936C>T , LRG_287t1:c.936C>T | NP_000209.2:p.Thr312= | |
| NM_181798.1:c.555C>T , LRG_287t2:c.555C>T | NP_861463.1:p.Thr185= | |
| NM_000218.3:c.936C>T MANE Select | NP_000209.2:p.Thr312= |