dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16271006 (AMR)
Genomes Max Group AF
0.16271006 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.165741969G>A , CM000668.2:g.165741969G>A | GRCh38 |
| NC_000006.11:g.166155457G>A , CM000668.1:g.166155457G>A | GRCh37 |
| NC_000006.10:g.166075447G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366882.7:c.-614-198401C>T | ENSP00000355847.3:n.-614-198401C>T | |
| ENST00000685292.1:n.572-30816C>T | ||
| ENST00000647768.3:c.107-30816C>T | ENSP00000497930.3:n.107-30816C>T | |
| ENST00000649882.1:n.551-30816C>T | ||
| ENST00000672859.1:c.-17-30816C>T | ENSP00000500900.1:n.-17-30816C>T | |
| ENST00000672902.1:c.-17-30816C>T | ENSP00000500351.1:n.-17-30816C>T | |
| ENST00000676766.1:c.107-198401C>T | ENSP00000504611.1:n.107-198401C>T | |
| ENST00000678161.1:c.-17-30816C>T | ENSP00000503721.1:n.-17-30816C>T | |
| ENST00000580695.1:n.497-198401C>T | ||
| XM_011535387.3:c.59-30816C>T | XP_011533689.2:n.59-30816C>T | |
| XM_017010194.2:c.59-30816C>T | XP_016865683.1:n.59-30816C>T | |
| XM_017010197.2:c.59-30816C>T | XP_016865686.1:n.59-30816C>T | |
| XR_001743121.2:n.2134-30816C>T |