gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69872984 (EAS)
Genomes Max Group AF
0.69872984 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218436360A>G , CM000663.2:g.218436360A>G | GRCh38 |
| NC_000001.10:g.218609702A>G , CM000663.1:g.218609702A>G | GRCh37 |
| NC_000001.9:g.216676325A>G | NCBI36 |
| NG_027721.1:g.96027A>G | |
| NG_027721.2:g.96027A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.932+213A>G MANE Select | ENSP00000355897.4:n.932+213A>G | |
| ENST00000366929.4:c.1016+213A>G | ENSP00000355896.4:n.1016+213A>G | |
| ENST00000366930.8:c.932+213A>G | ENSP00000355897.4:n.932+213A>G | |
| ENST00000479322.1:n.416+213A>G | ||
| NM_001135599.2:c.1016+213A>G | NP_001129071.1:n.1016+213A>G | |
| NM_003238.3:c.932+213A>G | NP_003229.1:n.932+213A>G | |
| NM_001135599.3:c.1016+213A>G | NP_001129071.1:n.1016+213A>G | |
| NM_003238.4:c.932+213A>G | NP_003229.1:n.932+213A>G | |
| NR_138148.1:n.2235+213A>G | ||
| NR_138149.1:n.2319+213A>G | ||
| NM_003238.5:c.932+213A>G | NP_003229.1:n.932+213A>G | |
| NM_003238.6:c.932+213A>G MANE Select | NP_003229.1:n.932+213A>G | |
| NM_001135599.4:c.1016+213A>G | NP_001129071.1:n.1016+213A>G | |
| NR_138148.2:n.2183+213A>G | ||
| NR_138149.2:n.2267+213A>G |