gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97537249 (EAS)
Genomes Max Group AF
0.97537249 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111466567T>A , CM000674.2:g.111466567T>A | GRCh38 |
| NC_000012.11:g.111904371T>A , CM000674.1:g.111904371T>A | GRCh37 |
| NC_000012.10:g.110388754T>A | NCBI36 |
| NG_011572.1:g.138110A>T | |
| NG_011572.2:g.138110A>T | |
| NG_011572.3:g.138110A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389153.10:c.2639-1852A>T | ENSP00000373805.6:n.2639-1852A>T | |
| ENST00000483311.6:c.*268-1852A>T | ENSP00000446512.2:n.*268-1852A>T | |
| ENST00000492467.6:c.2191-1852A>T | ||
| ENST00000642389.2:c.2843-1852A>T | ENSP00000496055.2:n.2843-1852A>T | |
| ENST00000643474.1:c.444+3541A>T | ||
| ENST00000643669.2:c.2876-1852A>T | ENSP00000494663.1:n.2876-1852A>T | |
| ENST00000643694.1:c.182-9208A>T | ENSP00000495833.1:n.182-9208A>T | |
| ENST00000645162.1:n.1191+3541A>T | ||
| ENST00000647445.1:c.249+3541A>T | ||
| ENST00000672335.1:n.2827+3541A>T | ||
| ENST00000672613.1:c.2837-1852A>T | ENSP00000500649.1:n.2837-1852A>T | |
| ENST00000673273.1:c.486-1852A>T | ||
| ENST00000673283.1:c.2626+3541A>T | ENSP00000500313.1:n.2626+3541A>T | |
| ENST00000673436.1:c.2843-1852A>T MANE Select | ENSP00000500925.1:n.2843-1852A>T | |
| ENST00000673449.1:c.2837-1852A>T | ENSP00000500646.1:n.2837-1852A>T | |
| ENST00000673557.1:c.2879-1852A>T | ENSP00000500766.1:n.2879-1852A>T | |
| ENST00000377617.7:c.3317-1852A>T | ENSP00000366843.3:n.3317-1852A>T | |
| ENST00000389153.8:c.2528-1852A>T | ENSP00000373805.4:n.2528-1852A>T | |
| ENST00000389154.7:c.740-1852A>T | ENSP00000373806.4:n.740-1852A>T | |
| ENST00000482777.5:n.417+3541A>T | ||
| ENST00000483311.5:c.3018-1852A>T | ||
| ENST00000535949.5:c.2449+3541A>T | ENSP00000439338.1:n.2449+3541A>T | |
| ENST00000542287.6:c.2522-1852A>T | ENSP00000445583.2:n.2522-1852A>T | |
| ENST00000550104.5:c.3317-1852A>T | ENSP00000446576.2:n.3317-1852A>T | |
| ENST00000550844.2:c.134-1852A>T | ENSP00000447741.3:n.134-1852A>T | |
| ENST00000550889.5:n.1521+3541A>T | ||
| ENST00000551755.6:c.642-1852A>T | ||
| ENST00000608853.5:c.2837-1852A>T | ENSP00000476504.1:n.2837-1852A>T | |
| ENST00000616825.4:c.2449+3541A>T | ENSP00000481448.1:n.2449+3541A>T | |
| NM_001310121.1:c.2522-1852A>T | NP_001297050.1:n.2522-1852A>T | |
| NM_001310123.1:c.2449+3541A>T | NP_001297052.1:n.2449+3541A>T | |
| NM_002973.3:c.3317-1852A>T | NP_002964.3:n.3317-1852A>T | |
| NR_132311.1:n.3418-1852A>T | ||
| NM_001372574.1:c.2843-1852A>T MANE Select | NP_001359503.1:n.2843-1852A>T | |
| NM_002973.4:c.2837-1852A>T | NP_002964.4:n.2837-1852A>T | |
| NR_132311.2:n.3057-1852A>T |