gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66564245 (EAS)
Genomes Max Group AF
0.66564245 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.63406212T>G , CM000673.2:g.63406212T>G | GRCh38 |
| NC_000011.9:g.63173684T>G , CM000673.1:g.63173684T>G | GRCh37 |
| NC_000011.8:g.62930260T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279178.4:c.1074-285T>G MANE Select | ENSP00000279178.3:n.1074-285T>G | |
| ENST00000279178.3:c.1074-285T>G | ENSP00000279178.3:n.1074-285T>G | |
| ENST00000536333.5:c.*202-285T>G | ENSP00000440206.1:n.*202-285T>G | |
| NM_080866.2:c.1074-285T>G | NP_543142.2:n.1074-285T>G | |
| XM_017017159.2:c.1074-285T>G | XP_016872648.1:n.1074-285T>G | |
| XM_017017160.1:c.381-285T>G | XP_016872649.1:n.381-285T>G | |
| NM_080866.3:c.1074-285T>G MANE Select | NP_543142.2:n.1074-285T>G |