gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69085503 (EAS)
Genomes Max Group AF
0.69085503 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218425127A>T , CM000663.2:g.218425127A>T | GRCh38 |
| NC_000001.10:g.218598469A>T , CM000663.1:g.218598469A>T | GRCh37 |
| NC_000001.9:g.216665092A>T | NCBI36 |
| NG_027721.1:g.84794A>T | |
| NG_027721.2:g.84794A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.511-8955A>T MANE Select | ENSP00000355897.4:n.511-8955A>T | |
| ENST00000366929.4:c.595-8955A>T | ENSP00000355896.4:n.595-8955A>T | |
| ENST00000366930.8:c.511-8955A>T | ENSP00000355897.4:n.511-8955A>T | |
| ENST00000488793.1:n.175-8955A>T | ||
| NM_001135599.2:c.595-8955A>T | NP_001129071.1:n.595-8955A>T | |
| NM_003238.3:c.511-8955A>T | NP_003229.1:n.511-8955A>T | |
| NM_001135599.3:c.595-8955A>T | NP_001129071.1:n.595-8955A>T | |
| NM_003238.4:c.511-8955A>T | NP_003229.1:n.511-8955A>T | |
| NR_138148.1:n.1929-8955A>T | ||
| NR_138149.1:n.2013-8955A>T | ||
| NM_003238.5:c.511-8955A>T | NP_003229.1:n.511-8955A>T | |
| NM_003238.6:c.511-8955A>T MANE Select | NP_003229.1:n.511-8955A>T | |
| NM_001135599.4:c.595-8955A>T | NP_001129071.1:n.595-8955A>T | |
| NR_138148.2:n.1877-8955A>T | ||
| NR_138149.2:n.1961-8955A>T |