gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17445589 (SAS)
Genomes Max Group AF
0.17445589 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.65477214T>C , CM000668.2:g.65477214T>C | GRCh38 |
| NC_000006.11:g.66187107T>C , CM000668.1:g.66187107T>C | GRCh37 |
| NC_000006.10:g.66243828T>C | NCBI36 |
| NG_023443.1:g.235012A>G | |
| NG_023443.2:g.235012A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.862+13380A>G MANE Select | ENSP00000424243.1:n.862+13380A>G | |
| ENST00000342421.9:c.862+13380A>G | ENSP00000341818.5:n.862+13380A>G | |
| ENST00000370616.6:c.862+13380A>G | ENSP00000359650.2:n.862+13380A>G | |
| ENST00000370618.7:c.862+13380A>G | ENSP00000359652.4:n.862+13380A>G | |
| ENST00000370621.7:c.862+13380A>G | ENSP00000359655.3:n.862+13380A>G | |
| ENST00000393380.6:c.862+13380A>G | ENSP00000377042.2:n.862+13380A>G | |
| ENST00000503581.5:c.862+13380A>G | ENSP00000424243.1:n.862+13380A>G | |
| NM_001142800.1:c.862+13380A>G | NP_001136272.1:n.862+13380A>G | |
| NM_001142801.1:c.862+13380A>G | NP_001136273.1:n.862+13380A>G | |
| NM_001292009.1:c.862+13380A>G | NP_001278938.1:n.862+13380A>G | |
| NM_198283.1:c.862+13380A>G | NP_938024.1:n.862+13380A>G | |
| NM_001142800.2:c.862+13380A>G MANE Select | NP_001136272.1:n.862+13380A>G | |
| NM_001142801.2:c.862+13380A>G | NP_001136273.1:n.862+13380A>G | |
| NM_001292009.2:c.862+13380A>G | NP_001278938.1:n.862+13380A>G | |
| NM_198283.2:c.862+13380A>G | NP_938024.1:n.862+13380A>G |