gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003466 (AFR)
Genomes Max Group AF
0.00005279 (AMR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121001150C>T , CM000674.2:g.121001150C>T | GRCh38 |
| NC_000012.11:g.121438953C>T , CM000674.1:g.121438953C>T | GRCh37 |
| NC_000012.10:g.119923336C>T | NCBI36 |
| NG_011731.2:g.27405C>T , LRG_522:g.27405C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*601C>T (HNF1A) | ENSP00000453965.2:n.*601C>T | |
| ENST00000257555.11:c.1854C>T (HNF1A) MANE Select | ENSP00000257555.5:p.Ile618= | |
| ENST00000257555.10:c.1854C>T (HNF1A) | ENSP00000257555.4:p.Ile618= | |
| ENST00000288757.7:c.*3003G>A (C12orf43) MANE Select | ENSP00000288757.5:n.*3003G>A | |
| ENST00000540108.1:c.*1294C>T (HNF1A) | ENSP00000445445.1:n.*1294C>T | |
| ENST00000541395.5:c.1947C>T (HNF1A) | ENSP00000443112.1:p.Ile649= | |
| ENST00000543427.5:c.1317C>T (HNF1A) | ENSP00000439721.2:p.Ile439= | |
| ENST00000544413.2:c.1875C>T (HNF1A) | ENSP00000438804.1:p.Ile625= | |
| ENST00000560968.5:c.1671C>T (HNF1A) | ||
| ENST00000615446.4:c.642C>T (HNF1A) | ENSP00000483994.1:p.Ile214= | |
| ENST00000617366.4:c.*263C>T (HNF1A) | ENSP00000481967.1:n.*263C>T | |
| NM_000545.5:c.1854C>T , LRG_522t1:c.1854C>T (HNF1A) | NP_000536.5:p.Ile618= | |
| NM_000545.6:c.1854C>T (HNF1A) | NP_000536.5:p.Ile618= | |
| NM_001306179.1:c.1875C>T (HNF1A) | NP_001293108.1:p.Ile625= | |
| XM_005253931.2:c.1947C>T (HNF1A) | XP_005253988.1:p.Ile649= | |
| XM_024449168.1:c.1947C>T (HNF1A) | XP_024304936.1:p.Ile649= | |
| NM_000545.8:c.1854C>T (HNF1A) MANE Select | NP_000536.6:p.Ile618= | |
| NM_001286191.2:c.*3003G>A (C12orf43) | NP_001273120.1:n.*3003G>A | |
| NM_001286196.2:c.*3003G>A (C12orf43) | NP_001273125.1:n.*3003G>A | |
| NM_001306179.2:c.1875C>T (HNF1A) | NP_001293108.2:p.Ile625= | |
| NM_022895.3:c.*3003G>A (C12orf43) MANE Select | NP_075046.1:n.*3003G>A |