gnomAD v4:
Joint Max Group AF
0.00209336 (AMR)
Exomes Max Group AF
0.00286063 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583363T>G , CM000673.2:g.2583363T>G | GRCh38 |
| NC_000011.9:g.2604593T>G , CM000673.1:g.2604593T>G | GRCh37 |
| NC_000011.8:g.2561169T>G | NCBI36 |
| NG_008935.1:g.143373T>G , LRG_287:g.143373T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.661-72T>G | ENSP00000434560.2:n.661-72T>G | |
| ENST00000646564.2:c.478-72T>G | ENSP00000495806.2:n.478-72T>G | |
| ENST00000155840.12:c.922-72T>G MANE Select | ENSP00000155840.2:n.922-72T>G | |
| ENST00000335475.6:c.541-72T>G | ENSP00000334497.5:n.541-72T>G | |
| ENST00000646564.1:c.124-72T>G | ENSP00000495806.1:n.124-72T>G | |
| ENST00000155840.9:c.922-72T>G | ENSP00000155840.2:n.922-72T>G | |
| ENST00000335475.5:c.541-72T>G | ENSP00000334497.5:n.541-72T>G | |
| NM_000218.2:c.922-72T>G , LRG_287t1:c.922-72T>G | NP_000209.2:n.922-72T>G | |
| NM_181798.1:c.541-72T>G , LRG_287t2:c.541-72T>G | NP_861463.1:n.541-72T>G | |
| NM_000218.3:c.922-72T>G MANE Select | NP_000209.2:n.922-72T>G |