gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40025159 (AFR)
Genomes Max Group AF
0.40025159 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47273752A>G , CM000679.2:g.47273752A>G | GRCh38 |
| NC_000017.10:g.45351118A>G , CM000679.1:g.45351118A>G | GRCh37 |
| NC_000017.9:g.42706117A>G | NCBI36 |
| NG_008332.2:g.24911A>G , LRG_481:g.24911A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.80-667A>G | ENSP00000513002.1:n.80-667A>G | |
| ENST00000559488.7:c.80-667A>G MANE Select | ENSP00000452786.2:n.80-667A>G | |
| ENST00000559488.5:c.80-667A>G | ENSP00000452786.1:n.80-667A>G | |
| ENST00000560629.1:c.45-667A>G | ||
| ENST00000571680.1:c.80-667A>G | ENSP00000461626.1:n.80-667A>G | |
| NM_000212.2:c.80-667A>G , LRG_481t1:c.80-667A>G | NP_000203.2:n.80-667A>G | |
| NM_000212.3:c.80-667A>G MANE Select | NP_000203.2:n.80-667A>G |