gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290949C>T , CM000668.2:g.24290949C>T | GRCh38 |
| NC_000006.11:g.24291177C>T , CM000668.1:g.24291177C>T | GRCh37 |
| NC_000006.10:g.24399156C>T | NCBI36 |
| NG_012829.1:g.72104G>A | |
| NG_012829.2:g.97344G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.687G>A MANE Select | ENSP00000367715.3:p.Thr229= | |
| ENST00000378454.7:c.687G>A | ENSP00000367715.3:p.Thr229= | |
| NM_001195610.1:c.687G>A | NP_001182539.1:p.Thr229= | |
| NM_016356.4:c.687G>A | NP_057440.2:p.Thr229= | |
| NM_016356.5:c.687G>A MANE Select | NP_057440.2:p.Thr229= | |
| NM_001195610.2:c.687G>A | NP_001182539.1:p.Thr229= |