gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000038 (SAS)
Exomes Max Group AF
0.00000402 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119297046A>G , CM000673.2:g.119297046A>G | GRCh38 |
| NC_000011.9:g.119167756A>G , CM000673.1:g.119167756A>G | GRCh37 |
| NC_000011.8:g.118672966A>G | NCBI36 |
| NG_016808.1:g.95767A>G , LRG_608:g.95767A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*1605+12A>G | ENSP00000515005.1:n.*1605+12A>G | |
| ENST00000264033.6:c.2153+12A>G MANE Select | ENSP00000264033.3:n.2153+12A>G | |
| ENST00000637974.1:c.2147+12A>G | ENSP00000490763.1:n.2147+12A>G | |
| ENST00000264033.5:c.2153+12A>G | ENSP00000264033.3:n.2153+12A>G | |
| ENST00000634586.1:c.2153+12A>G | ENSP00000489218.1:n.2153+12A>G | |
| ENST00000634840.1:c.2021+12A>G | ENSP00000489324.1:n.2021+12A>G | |
| NM_005188.3:c.2153+12A>G , LRG_608t1:c.2153+12A>G | NP_005179.2:n.2153+12A>G | |
| NM_005188.4:c.2153+12A>G MANE Select | NP_005179.2:n.2153+12A>G |