gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32351617 (NFE)
Genomes Max Group AF
0.32351617 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7862738A>G , CM000669.2:g.7862738A>G | GRCh38 |
| NC_000007.13:g.7902369A>G , CM000669.1:g.7902369A>G | GRCh37 |
| NC_000007.12:g.7868894A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682710.1:c.157-14543A>G MANE Select | ENSP00000507605.1:n.157-14543A>G | |
| ENST00000406829.2:n.169-14543A>G | ||
| ENST00000463725.5:n.397-14543A>G | ||
| ENST00000482067.3:n.247+60995A>G | ||
| ENST00000636849.1:c.157-14543A>G | ENSP00000489648.1:n.157-14543A>G | |
| ENST00000638342.1:c.157-5592A>G | ENSP00000491286.1:n.157-5592A>G | |
| ENST00000639110.1:c.157-5592A>G | ENSP00000491319.1:n.157-5592A>G | |
| ENST00000639343.1:c.*59-14543A>G | ENSP00000491077.1:n.*59-14543A>G | |
| NM_001302348.1:c.157-14543A>G | NP_001289277.1:n.157-14543A>G | |
| NM_001302349.1:c.157-14543A>G | NP_001289278.1:n.157-14543A>G | |
| NM_001302350.1:c.52-14543A>G | NP_001289279.1:n.52-14543A>G | |
| NM_001302348.2:c.157-14543A>G MANE Select | NP_001289277.1:n.157-14543A>G | |
| NM_001302349.2:c.157-14543A>G | NP_001289278.1:n.157-14543A>G | |
| NM_001302350.2:c.52-14543A>G | NP_001289279.1:n.52-14543A>G |