gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47101362 (NFE)
Genomes Max Group AF
0.47101362 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.205787576C>G , CM000664.2:g.205787576C>G | GRCh38 |
| NC_000002.11:g.206652300C>G , CM000664.1:g.206652300C>G | GRCh37 |
| NC_000002.10:g.206360545C>G | NCBI36 |
| NG_029567.1:g.110077C>G | |
| NG_029567.2:g.110077C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357785.10:c.2426-4659C>G MANE Select | ENSP00000350432.5:n.2426-4659C>G | |
| ENST00000357785.9:c.2426-4659C>G | ENSP00000350432.5:n.2426-4659C>G | |
| ENST00000360409.7:c.2441-4659C>G | ENSP00000353582.3:n.2441-4659C>G | |
| ENST00000412873.2:c.2426-7178C>G | ENSP00000407626.2:n.2426-7178C>G | |
| ENST00000467850.1:n.276-4659C>G | ||
| NM_003872.2:c.2426-4659C>G | NP_003863.2:n.2426-4659C>G | |
| NM_201266.1:c.2441-4659C>G | NP_957718.1:n.2441-4659C>G | |
| NM_201279.1:c.2426-7178C>G | NP_958436.1:n.2426-7178C>G | |
| XM_005246933.2:c.2441-4659C>G | XP_005246990.2:n.2441-4659C>G | |
| XM_005246934.2:c.2441-4659C>G | XP_005246991.2:n.2441-4659C>G | |
| XR_923055.1:n.3005-4659C>G | ||
| XM_017005187.2:c.*2079C>G | XP_016860676.1:n.*2079C>G | |
| XM_017005188.2:c.*2079C>G | XP_016860677.1:n.*2079C>G | |
| XR_923055.3:n.2211-4659C>G | ||
| NM_003872.3:c.2426-4659C>G MANE Select | NP_003863.2:n.2426-4659C>G | |
| NM_201266.2:c.2441-4659C>G | NP_957718.1:n.2441-4659C>G | |
| NM_201279.2:c.2426-7178C>G | NP_958436.1:n.2426-7178C>G |