gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000341 (NFE)
Exomes Max Group AF
0.00000366 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10150273G>T , CM000665.2:g.10150273G>T | GRCh38 |
| NC_000003.11:g.10191957G>T , CM000665.1:g.10191957G>T | GRCh37 |
| NC_000003.10:g.10166957G>T | NCBI36 |
| NG_008212.3:g.13639G>T , LRG_322:g.13639G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*627G>T | ENSP00000512434.1:n.*627G>T | |
| ENST00000696143.1:c.1086G>T | ENSP00000512435.1:n.1086G>T | |
| ENST00000696153.1:c.*308G>T | ENSP00000512444.1:n.*308G>T | |
| ENST00000256474.3:c.*308G>T MANE Select | ENSP00000256474.3:n.*308G>T | |
| ENST00000256474.2:c.*308G>T | ENSP00000256474.2:n.*308G>T | |
| ENST00000345392.2:c.*308G>T | ENSP00000344757.2:n.*308G>T | |
| NM_000551.3:c.*308G>T , LRG_322t1:c.*308G>T | NP_000542.1:n.*308G>T | |
| NM_198156.2:c.*308G>T | NP_937799.1:n.*308G>T | |
| NM_001354723.1:c.*504G>T | NP_001341652.1:n.*504G>T | |
| NM_000551.4:c.*308G>T MANE Select | NP_000542.1:n.*308G>T | |
| NM_001354723.2:c.*504G>T | NP_001341652.1:n.*504G>T | |
| NM_198156.3:c.*308G>T | NP_937799.1:n.*308G>T |