gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00038598 (NFE)
Genomes Max Group AF
0.00022031 (NFE)
Exomes Max Group AF
0.00038985 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2884788G>C , CM000673.2:g.2884788G>C | GRCh38 |
| NC_000011.9:g.2906018G>C , CM000673.1:g.2906018G>C | GRCh37 |
| NC_000011.8:g.2862594G>C | NCBI36 |
| NG_008022.1:g.5978C>G , LRG_533:g.5978C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681969.1:n.143-654C>G | ||
| ENST00000380725.2:c.255+414C>G | ENSP00000370101.1:n.255+414C>G | |
| ENST00000414822.8:c.702C>G | ENSP00000413720.3:p.Gly234= | |
| ENST00000430149.3:c.702C>G | ENSP00000411552.2:p.Gly234= | |
| ENST00000440480.8:c.669C>G MANE Select | ENSP00000411257.2:p.Gly223= | |
| ENST00000647251.1:c.255+414C>G | ENSP00000496631.1:n.255+414C>G | |
| ENST00000380725.1:c.255+414C>G | ENSP00000370101.1:n.255+414C>G | |
| ENST00000414822.7:c.702C>G | ENSP00000413720.3:p.Gly234= | |
| ENST00000430149.2:c.702C>G | ENSP00000411552.2:p.Gly234= | |
| ENST00000440480.6:c.669C>G | ENSP00000411257.2:p.Gly223= | |
| NM_000076.2:c.702C>G , LRG_533t1:c.702C>G | NP_000067.1:p.Gly234= | |
| NM_001122630.1:c.669C>G | NP_001116102.1:p.Gly223= | |
| NM_001122631.1:c.669C>G | NP_001116103.1:p.Gly223= | |
| XM_005252732.3:c.255+414C>G | XP_005252789.1:n.255+414C>G | |
| NM_001362474.1:c.702C>G | NP_001349403.1:p.Gly234= | |
| NM_001362475.1:c.255+414C>G | NP_001349404.1:n.255+414C>G | |
| NM_001122630.2:c.669C>G MANE Select | NP_001116102.1:p.Gly223= | |
| NM_001122631.2:c.669C>G | NP_001116103.1:p.Gly223= | |
| NM_001362474.2:c.702C>G | NP_001349403.1:p.Gly234= | |
| NM_001362475.2:c.255+414C>G | NP_001349404.1:n.255+414C>G |