gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000801 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151577371C>G , CM000668.2:g.151577371C>G | GRCh38 |
| NC_000006.11:g.151898506C>G , CM000668.1:g.151898506C>G | GRCh37 |
| NC_000006.10:g.151940199C>G | NCBI36 |
| NG_021198.1:g.88332C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1092+3880C>G MANE Select | ENSP00000239374.6:n.1092+3880C>G | |
| ENST00000239374.7:c.1092+3880C>G | ENSP00000239374.6:n.1092+3880C>G | |
| NM_025059.3:c.1092+3880C>G | NP_079335.2:n.1092+3880C>G | |
| XM_011536147.1:c.1110+3880C>G | XP_011534449.1:n.1110+3880C>G | |
| XM_011536148.1:c.1110+3880C>G | XP_011534450.1:n.1110+3880C>G | |
| XM_011536147.2:c.1110+3880C>G | XP_011534449.1:n.1110+3880C>G | |
| XM_011536148.2:c.1110+3880C>G | XP_011534450.1:n.1110+3880C>G | |
| NM_025059.4:c.1092+3880C>G MANE Select | NP_079335.2:n.1092+3880C>G |