gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67821928 (AFR)
Genomes Max Group AF
0.6751086 (AFR)
Exomes Max Group AF
0.67867593 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44975362C>T , CM000682.2:g.44975362C>T | GRCh38 |
| NC_000020.10:g.43604003C>T , CM000682.1:g.43604003C>T | GRCh37 |
| NC_000020.9:g.43037417C>T | NCBI36 |
| NG_032172.1:g.13884C>T , LRG_535:g.13884C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474717.3:c.-112-3081C>T | ENSP00000479564.2:n.-112-3081C>T | |
| ENST00000487587.3:c.*1317C>T | ENSP00000482076.1:n.*1317C>T | |
| ENST00000488618.2:n.2710C>T | ||
| ENST00000499879.7:c.117-3081C>T | ENSP00000443514.1:n.117-3081C>T | |
| ENST00000698219.1:c.*1439C>T | ENSP00000513612.1:n.*1439C>T | |
| ENST00000698220.1:c.*1342C>T | ENSP00000513613.1:n.*1342C>T | |
| ENST00000698221.1:c.117-3081C>T | ENSP00000513614.1:n.117-3081C>T | |
| ENST00000698222.1:c.*29C>T | ENSP00000513615.1:n.*29C>T | |
| ENST00000698223.1:n.231-3081C>T | ||
| ENST00000698224.1:c.22-3081C>T | ||
| ENST00000372806.8:c.117-3081C>T MANE Select | ENSP00000361892.3:n.117-3081C>T | |
| ENST00000372801.5:c.117-3081C>T | ENSP00000361887.1:n.117-3081C>T | |
| ENST00000372806.7:c.117-3081C>T | ENSP00000361892.3:n.117-3081C>T | |
| ENST00000474717.2:c.-112-3081C>T | ENSP00000479564.1:n.-112-3081C>T | |
| ENST00000487587.2:c.*1317C>T | ENSP00000482076.1:n.*1317C>T | |
| ENST00000499879.6:c.117-3081C>T | ENSP00000443514.1:n.117-3081C>T | |
| NM_006282.2:c.117-3081C>T , LRG_535t1:c.117-3081C>T | NP_006273.1:n.117-3081C>T | |
| XM_005260530.2:c.165-3081C>T | XP_005260587.1:n.165-3081C>T | |
| XM_005260531.2:c.165-3081C>T | XP_005260588.1:n.165-3081C>T | |
| XM_005260532.2:c.29C>T | XP_005260589.1:p.Thr10Ile | |
| XM_005260533.2:c.117-3081C>T | XP_005260590.1:n.117-3081C>T | |
| XM_011529018.1:c.-113+1929C>T | XP_011527320.1:n.-113+1929C>T | |
| XM_011529019.1:c.-113+1929C>T | XP_011527321.1:n.-113+1929C>T | |
| XM_011529020.1:c.165-3081C>T | XP_011527322.1:n.165-3081C>T | |
| NM_001352385.1:c.117-3081C>T | NP_001339314.1:n.117-3081C>T | |
| NM_006282.4:c.117-3081C>T | NP_006273.1:n.117-3081C>T | |
| NR_147974.1:n.1611C>T | ||
| XM_005260531.3:c.165-3081C>T | XP_005260588.1:n.165-3081C>T | |
| XM_005260532.4:c.29C>T | XP_005260589.1:p.Thr10Ile | |
| XM_011529018.3:c.-113+1929C>T | XP_011527320.1:n.-113+1929C>T | |
| XM_011529020.2:c.165-3081C>T | XP_011527322.1:n.165-3081C>T | |
| XM_017028029.2:c.29C>T | XP_016883518.1:p.Thr10Ile | |
| XM_017028030.2:c.29C>T | XP_016883519.1:p.Thr10Ile | |
| XM_017028031.2:c.29C>T | XP_016883520.1:p.Thr10Ile | |
| XM_017028032.2:c.-51C>T | XP_016883521.1:n.-51C>T | |
| XM_017028033.2:c.117-3081C>T | XP_016883522.1:n.117-3081C>T | |
| NM_006282.5:c.117-3081C>T MANE Select | NP_006273.1:n.117-3081C>T | |
| NM_001352385.2:c.117-3081C>T | NP_001339314.1:n.117-3081C>T | |
| NR_147974.2:n.1569C>T |