gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022978 (NFE)
Genomes Max Group AF
0.00029235 (NFE)
Exomes Max Group AF
0.00022053 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19883454G>C , CM000684.2:g.19883454G>C | GRCh38 |
| NC_000022.10:g.19870977G>C , CM000684.1:g.19870977G>C | GRCh37 |
| NC_000022.9:g.18250977G>C | NCBI36 |
| NG_011835.1:g.63383C>G , LRG_417:g.63383C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.957C>G MANE Select | ENSP00000383365.1:p.Val319= | |
| ENST00000400518.5:c.867C>G | ENSP00000383362.1:p.Val289= | |
| ENST00000400519.6:c.954C>G | ENSP00000383363.1:p.Val318= | |
| ENST00000400521.6:c.957C>G | ENSP00000383365.1:p.Val319= | |
| ENST00000400525.6:c.888C>G | ENSP00000383369.3:p.Val296= | |
| ENST00000474308.5:c.900C>G | ENSP00000485665.1:p.Val300= | |
| ENST00000487165.5:n.1051C>G | ||
| ENST00000494454.5:n.1031C>G | ||
| ENST00000542719.6:c.669C>G | ENSP00000485128.2:p.Val223= | |
| ENST00000634471.1:n.114C>G | ||
| ENST00000634537.1:c.186C>G | ENSP00000489208.1:p.Val62= | |
| NM_006440.4:c.957C>G | NP_006431.2:p.Val319= | |
| NM_001352300.1:c.954C>G | NP_001339229.1:p.Val318= | |
| NM_001352301.1:c.867C>G | NP_001339230.1:p.Val289= | |
| NM_001352302.1:c.669C>G | NP_001339231.1:p.Val223= | |
| NR_147957.1:n.1089C>G | ||
| NM_006440.5:c.957C>G MANE Select | NP_006431.2:p.Val319= | |
| NM_001352300.2:c.954C>G | NP_001339229.1:p.Val318= | |
| NR_147957.2:n.915C>G | ||
| NM_001352301.2:c.867C>G | NP_001339230.1:p.Val289= | |
| NM_001352302.2:c.669C>G | NP_001339231.1:p.Val223= |