gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44060311 (EAS)
Genomes Max Group AF
0.44060311 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35391174C>G , CM000684.2:g.35391174C>G | GRCh38 |
| NC_000022.10:g.35787167C>G , CM000684.1:g.35787167C>G | GRCh37 |
| NC_000022.9:g.34117167C>G | NCBI36 |
| NG_023030.1:g.15108C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216117.9:c.736+1211C>G MANE Select | ENSP00000216117.8:n.736+1211C>G | |
| ENST00000481190.2:c.*641+1211C>G | ENSP00000503987.1:n.*641+1211C>G | |
| ENST00000677931.1:c.244+1211C>G | ENSP00000502849.1:n.244+1211C>G | |
| ENST00000678411.1:c.343+1211C>G | ENSP00000503526.1:n.343+1211C>G | |
| ENST00000679074.1:c.637-2294C>G | ENSP00000503459.1:n.637-2294C>G | |
| ENST00000216117.8:c.736+1211C>G | ENSP00000216117.8:n.736+1211C>G | |
| NM_002133.2:c.736+1211C>G | NP_002124.1:n.736+1211C>G | |
| NM_002133.3:c.736+1211C>G MANE Select | NP_002124.1:n.736+1211C>G |