gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48764084 (SAS)
Genomes Max Group AF
0.48764084 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.165601943T>C , CM000668.2:g.165601943T>C | GRCh38 |
| NC_000006.11:g.166015431T>C , CM000668.1:g.166015431T>C | GRCh37 |
| NC_000006.10:g.165935421T>C | NCBI36 |
| NG_031878.2:g.65158A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366882.7:c.-614-58375A>G | ENSP00000355847.3:n.-614-58375A>G | |
| ENST00000685292.1:n.707-58375A>G | ||
| ENST00000366882.6:c.68-58375A>G | ENSP00000355847.2:n.68-58375A>G | |
| ENST00000539869.4:c.866-58375A>G MANE Select | ENSP00000438284.3:n.866-58375A>G | |
| ENST00000647590.1:c.17-58375A>G | ENSP00000497062.1:n.17-58375A>G | |
| ENST00000647768.3:c.242-58375A>G | ENSP00000497930.3:n.242-58375A>G | |
| ENST00000647837.1:c.155-25494A>G | ENSP00000497085.1:n.155-25494A>G | |
| ENST00000647989.1:n.143+9411A>G | ||
| ENST00000648917.1:c.73+52870A>G | ENSP00000497277.1:n.73+52870A>G | |
| ENST00000649247.1:c.69+52870A>G | ||
| ENST00000672859.1:c.119-58375A>G | ENSP00000500900.1:n.119-58375A>G | |
| ENST00000672902.1:c.119-58375A>G | ENSP00000500351.1:n.119-58375A>G | |
| ENST00000676766.1:c.107-58375A>G | ENSP00000504611.1:n.107-58375A>G | |
| ENST00000678161.1:c.119-58375A>G | ENSP00000503721.1:n.119-58375A>G | |
| ENST00000366882.5:c.-1-25494A>G | ENSP00000355847.1:n.-1-25494A>G | |
| ENST00000539869.2:c.68-58375A>G | ENSP00000438284.2:n.68-58375A>G | |
| ENST00000580695.1:n.497-58375A>G | ||
| NM_001130690.2:c.68-58375A>G | NP_001124162.1:n.68-58375A>G | |
| NM_006661.3:c.-91-25404A>G | NP_006652.1:n.-91-25404A>G | |
| XM_011535387.1:c.119-58375A>G | XP_011533689.1:n.119-58375A>G | |
| XM_011535391.1:c.-419-25404A>G | XP_011533693.1:n.-419-25404A>G | |
| XM_011535387.3:c.194-58375A>G | XP_011533689.2:n.194-58375A>G | |
| XM_017010194.2:c.194-58375A>G | XP_016865683.1:n.194-58375A>G | |
| XM_017010197.2:c.194-58375A>G | XP_016865686.1:n.194-58375A>G | |
| XM_024446311.1:c.-91-25404A>G | XP_024302079.1:n.-91-25404A>G | |
| XR_001743121.2:n.2269-58375A>G | ||
| NM_001130690.3:c.68-58375A>G | NP_001124162.1:n.68-58375A>G | |
| NM_006661.4:c.-91-25404A>G | NP_006652.1:n.-91-25404A>G | |
| NM_001385079.1:c.866-58375A>G MANE Select | NP_001372008.1:n.866-58375A>G |