gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60575851 (EAS)
Genomes Max Group AF
0.60575851 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12262403T>G , CM000680.2:g.12262403T>G | GRCh38 |
| NC_000018.9:g.12262402T>G , CM000680.1:g.12262402T>G | GRCh37 |
| NC_000018.8:g.12252402T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320477.10:c.39-422T>G MANE Select | ENSP00000320209.8:n.39-422T>G | |
| ENST00000320477.9:c.39-422T>G | ENSP00000320209.8:n.39-422T>G | |
| ENST00000520620.1:n.233-422T>G | ||
| ENST00000521296.5:n.256-422T>G | ||
| ENST00000522713.5:c.574-422T>G | ENSP00000429238.1:n.574-422T>G | |
| NM_001279.3:c.39-422T>G | NP_001270.1:n.39-422T>G | |
| NR_036468.1:n.597-422T>G | ||
| XM_011525602.1:c.-526-422T>G | XP_011523904.1:n.-526-422T>G | |
| NM_001318383.1:c.141-422T>G | NP_001305312.1:n.141-422T>G | |
| NR_134607.1:n.597-422T>G | ||
| NM_001279.4:c.39-422T>G MANE Select | NP_001270.1:n.39-422T>G | |
| NM_001318383.2:c.141-422T>G | NP_001305312.1:n.141-422T>G | |
| NR_134607.2:n.597-422T>G |