gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97669204 (EAS)
Genomes Max Group AF
0.97669204 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196826996A>G , CM000665.2:g.196826996A>G | GRCh38 |
| NC_000003.11:g.196553867A>G , CM000665.1:g.196553867A>G | GRCh37 |
| NC_000003.10:g.198038264A>G | NCBI36 |
| NG_009227.1:g.92140A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327134.7:c.1351-200A>G MANE Select | ENSP00000314067.3:n.1351-200A>G | |
| ENST00000426668.1:c.579-1323A>G | ||
| NM_002577.4:c.1351-200A>G MANE Select | NP_002568.2:n.1351-200A>G | |
| XM_011512870.1:c.1351-200A>G | XP_011511172.1:n.1351-200A>G | |
| XM_011512870.2:c.1351-200A>G | XP_011511172.1:n.1351-200A>G | |
| XM_017006501.1:c.1351-200A>G | XP_016861990.1:n.1351-200A>G |