gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75270883 (EAS)
Genomes Max Group AF
0.75270883 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132678417A>G , CM000667.2:g.132678417A>G | GRCh38 |
| NC_000005.9:g.132014109A>G , CM000667.1:g.132014109A>G | GRCh37 |
| NC_000005.8:g.132042008A>G | NCBI36 |
| NG_023252.1:g.9737A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231449.7:c.184-1297A>G MANE Select | ENSP00000231449.2:n.184-1297A>G | |
| ENST00000231449.6:c.184-1297A>G | ENSP00000231449.2:n.184-1297A>G | |
| ENST00000350025.2:c.136-1297A>G | ENSP00000325190.3:n.136-1297A>G | |
| ENST00000495905.1:n.150-1297A>G | ||
| ENST00000622422.1:c.284+536A>G | ENSP00000480581.1:n.284+536A>G | |
| NM_000589.3:c.184-1297A>G | NP_000580.1:n.184-1297A>G | |
| NM_172348.2:c.136-1297A>G | NP_758858.1:n.136-1297A>G | |
| NM_001354990.1:c.284+536A>G | NP_001341919.1:n.284+536A>G | |
| NM_000589.4:c.184-1297A>G MANE Select | NP_000580.1:n.184-1297A>G | |
| NM_172348.3:c.136-1297A>G | NP_758858.1:n.136-1297A>G | |
| NM_001354990.2:c.284+536A>G | NP_001341919.1:n.284+536A>G |