gnomAD v4:
Joint Max Group AF
0.00000371 (SAS)
Exomes Max Group AF
0.00000392 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50489911G>T , CM000684.2:g.50489911G>T | GRCh38 |
| NC_000022.10:g.50928340G>T , CM000684.1:g.50928340G>T | GRCh37 |
| NC_000022.9:g.49275206G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216075.11:c.*55G>T MANE Select | ENSP00000216075.6:n.*55G>T | |
| ENST00000216075.10:c.*55G>T | ENSP00000216075.6:n.*55G>T | |
| ENST00000395732.7:c.*86G>T | ENSP00000379081.3:n.*86G>T | |
| ENST00000395733.7:c.*86G>T | ENSP00000379082.3:n.*86G>T | |
| ENST00000451761.1:c.853G>T | ENSP00000409894.1:n.853G>T | |
| NM_017584.5:c.*55G>T | NP_060054.4:n.*55G>T | |
| XM_005261925.3:c.*55G>T | XP_005261982.1:n.*55G>T | |
| XR_244455.2:n.3409G>T | ||
| XM_005261925.4:c.*55G>T | XP_005261982.1:n.*55G>T | |
| NM_017584.6:c.*55G>T MANE Select | NP_060054.4:n.*55G>T |