gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36929826 (EAS)
Genomes Max Group AF
0.34908571 (SAS)
Exomes Max Group AF
0.37470004 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99691630A>G , CM000676.2:g.99691630A>G | GRCh38 |
| NC_000014.8:g.100157967A>G , CM000676.1:g.100157967A>G | GRCh37 |
| NC_000014.7:g.99227720A>G | NCBI36 |
| NG_007963.1:g.12213A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261835.8:c.201-150A>G MANE Select | ENSP00000261835.3:n.201-150A>G | |
| ENST00000261835.7:c.201-150A>G | ENSP00000261835.3:n.201-150A>G | |
| ENST00000380228.6:c.-91-150A>G | ENSP00000369577.3:n.-91-150A>G | |
| ENST00000554611.5:c.201-150A>G | ENSP00000451069.1:n.201-150A>G | |
| NM_006668.1:c.201-150A>G | NP_006659.1:n.201-150A>G | |
| XM_011536364.1:c.201-150A>G | XP_011534666.1:n.201-150A>G | |
| XM_017020933.2:c.44-150A>G | XP_016876422.1:n.44-150A>G | |
| NM_006668.2:c.201-150A>G MANE Select | NP_006659.1:n.201-150A>G |