gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67814884 (SAS)
Genomes Max Group AF
0.67814884 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147200311A>G , CM000669.2:g.147200311A>G | GRCh38 |
| NC_000007.13:g.146897403A>G , CM000669.1:g.146897403A>G | GRCh37 |
| NC_000007.12:g.146528336A>G | NCBI36 |
| NG_007092.2:g.1088951A>G | |
| NG_007092.3:g.1089311A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1348+67802A>G MANE Select | ENSP00000354778.3:n.1348+67802A>G | |
| ENST00000636870.1:n.1210+67802A>G | ||
| ENST00000637694.1:n.1251+67802A>G | ||
| ENST00000637825.1:n.831+67802A>G | ||
| ENST00000638117.1:n.1251+67802A>G | ||
| ENST00000361727.7:c.1348+67802A>G | ENSP00000354778.3:n.1348+67802A>G | |
| NM_014141.5:c.1348+67802A>G | NP_054860.1:n.1348+67802A>G | |
| XM_017011950.2:c.1348+67802A>G | XP_016867439.1:n.1348+67802A>G | |
| NM_014141.6:c.1348+67802A>G MANE Select | NP_054860.1:n.1348+67802A>G |