gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55250969 (AFR)
Genomes Max Group AF
0.55250969 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.14579942G>T , CM000686.2:g.14579942G>T | GRCh38 |
| NC_000024.9:g.16691822G>T , CM000686.1:g.16691822G>T | GRCh37 |
| NC_000024.8:g.15201216G>T | NCBI36 |
| NG_028212.1:g.62335G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684976.1:c.-111-42067G>T MANE Select | ENSP00000510011.1:n.-111-42067G>T | |
| ENST00000643089.1:c.-111-42067G>T | ENSP00000496594.1:n.-111-42067G>T | |
| ENST00000645399.1:c.-111-42067G>T | ENSP00000494046.1:n.-111-42067G>T | |
| ENST00000339174.9:c.-111-42067G>T | ENSP00000342535.5:n.-111-42067G>T | |
| ENST00000355905.6:c.-99-42079G>T | ENSP00000348169.2:n.-99-42079G>T | |
| ENST00000382868.5:c.-99-42079G>T | ENSP00000372320.1:n.-99-42079G>T | |
| ENST00000382872.5:c.-93+57001G>T | ENSP00000372325.1:n.-93+57001G>T | |
| ENST00000471252.1:n.305-42067G>T | ||
| ENST00000476359.1:n.154-42079G>T | ||
| ENST00000481089.1:n.181-42067G>T | ||
| NM_001206850.1:c.-93+57001G>T | NP_001193779.1:n.-93+57001G>T | |
| NM_014893.4:c.-99-42079G>T | NP_055708.3:n.-99-42079G>T | |
| NR_028319.1:n.364-42067G>T | ||
| NR_046355.1:n.69-42067G>T | ||
| XM_006724874.1:c.-111-42067G>T | XP_006724937.1:n.-111-42067G>T | |
| XM_011531424.1:c.-111-42067G>T | XP_011529726.1:n.-111-42067G>T | |
| XM_011531425.1:c.-111-42067G>T | XP_011529727.1:n.-111-42067G>T | |
| XM_011531426.1:c.-111-42067G>T | XP_011529728.1:n.-111-42067G>T | |
| XM_011531428.1:c.-112+19271G>T | XP_011529730.1:n.-112+19271G>T | |
| XM_011531430.1:c.-111-42067G>T | XP_011529732.1:n.-111-42067G>T | |
| XM_011531431.1:c.-111-42067G>T | XP_011529733.1:n.-111-42067G>T | |
| NM_001365584.1:c.-111-42067G>T | NP_001352513.1:n.-111-42067G>T | |
| NM_001365586.1:c.-111-42067G>T | NP_001352515.1:n.-111-42067G>T | |
| NM_001365588.1:c.-111-42067G>T MANE Select | NP_001352517.1:n.-111-42067G>T | |
| NM_001365590.1:c.-318-4231G>T | NP_001352519.1:n.-318-4231G>T | |
| NM_001365591.1:c.-111-42067G>T | NP_001352520.1:n.-111-42067G>T | |
| NM_001365592.1:c.-111-42067G>T | NP_001352521.1:n.-111-42067G>T | |
| NM_001365593.1:c.-111-42067G>T | NP_001352522.1:n.-111-42067G>T | |
| XM_006724874.2:c.-111-42067G>T | XP_006724937.1:n.-111-42067G>T | |
| XM_011531430.2:c.-111-42067G>T | XP_011529732.1:n.-111-42067G>T | |
| XM_017030041.1:c.-111-42067G>T | XP_016885530.1:n.-111-42067G>T | |
| XM_024452490.1:c.-112+19271G>T | XP_024308258.1:n.-112+19271G>T | |
| NM_001206850.2:c.-93+57001G>T | NP_001193779.1:n.-93+57001G>T | |
| NM_014893.5:c.-99-42079G>T | NP_055708.3:n.-99-42079G>T | |
| NR_046355.2:n.69-42067G>T | ||
| NM_001394830.1:c.-111-42067G>T | NP_001381759.1:n.-111-42067G>T | |
| NM_001394831.1:c.-111-42067G>T | NP_001381760.1:n.-111-42067G>T |