gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31091900T>G , CM000670.2:g.31091900T>G | GRCh38 |
| NC_000008.10:g.30949416T>G , CM000670.1:g.30949416T>G | GRCh37 |
| NC_000008.9:g.31068958T>G | NCBI36 |
| NG_008870.1:g.63639T>G , LRG_524:g.63639T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.1898+2T>G MANE Select | ENSP00000298139.5:n.1898+2T>G | |
| ENST00000650667.1:c.*1512+2T>G | ENSP00000498593.1:n.*1512+2T>G | |
| ENST00000298139.5:c.1898+2T>G | ENSP00000298139.5:n.1898+2T>G | |
| ENST00000521620.5:n.531+2T>G | ||
| NM_000553.4:c.1898+2T>G , LRG_524t1:c.1898+2T>G | NP_000544.2:n.1898+2T>G | |
| XM_011544639.1:c.1817+2T>G | XP_011542941.1:n.1817+2T>G | |
| XM_011544640.1:c.299+2T>G | XP_011542942.1:n.299+2T>G | |
| XR_949470.1:n.2171+2T>G | ||
| XR_949471.1:n.2171+2T>G | ||
| XR_949472.1:n.2171+2T>G | ||
| NM_000553.5:c.1898+2T>G | NP_000544.2:n.1898+2T>G | |
| XM_011544639.3:c.1817+2T>G | XP_011542941.1:n.1817+2T>G | |
| XM_024447265.1:c.1688+2T>G | XP_024303033.1:n.1688+2T>G | |
| XR_949470.3:n.2199+2T>G | ||
| XR_949471.3:n.2199+2T>G | ||
| XR_949472.3:n.2199+2T>G | ||
| NM_000553.6:c.1898+2T>G MANE Select | NP_000544.2:n.1898+2T>G |