gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42272223 (EAS)
Genomes Max Group AF
0.38000575 (EAS)
Exomes Max Group AF
0.44682564 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32399302A>G , CM000675.2:g.32399302A>G | GRCh38 |
| NC_000013.10:g.32973439A>G , CM000675.1:g.32973439A>G | GRCh37 |
| NC_000013.9:g.31871439A>G | NCBI36 |
| NG_012772.3:g.88823A>G , LRG_293:g.88823A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*1312A>G | ENSP00000434898.2:n.*1312A>G | |
| ENST00000530893.7:c.*532A>G | ENSP00000499438.2:n.*532A>G | |
| ENST00000380152.8:c.*532A>G MANE Select | ENSP00000369497.3:n.*532A>G | |
| ENST00000544455.6:c.*532A>G | ENSP00000439902.1:n.*532A>G | |
| ENST00000614259.2:c.10797A>G | ENSP00000506251.1:n.10797A>G | |
| ENST00000680887.1:c.*532A>G | ENSP00000505508.1:n.*532A>G | |
| ENST00000380152.7:c.*532A>G | ENSP00000369497.3:n.*532A>G | |
| ENST00000544455.5:c.*440+92A>G | ENSP00000439902.1:n.*440+92A>G | |
| NM_000059.3:c.*532A>G , LRG_293t1:c.*532A>G | NP_000050.2:n.*532A>G | |
| XM_011535203.1:c.*532A>G | XP_011533505.1:n.*532A>G | |
| XM_011535204.1:c.*532A>G | XP_011533506.1:n.*532A>G | |
| NM_000059.4:c.*532A>G MANE Select | NP_000050.3:n.*532A>G |