gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54892381 (EAS)
Genomes Max Group AF
0.54892381 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.28253582T>C , CM000674.2:g.28253582T>C | GRCh38 |
| NC_000012.11:g.28406515T>C , CM000674.1:g.28406515T>C | GRCh37 |
| NC_000012.10:g.28297782T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536442.6:c.-14-3620T>C MANE Select | ENSP00000445660.2:n.-14-3620T>C | |
| ENST00000535520.5:c.-14-3620T>C | ENSP00000438558.1:n.-14-3620T>C | |
| ENST00000536154.5:c.-19+27721T>C | ENSP00000444440.1:n.-19+27721T>C | |
| ENST00000536442.5:c.-14-3620T>C | ENSP00000445660.1:n.-14-3620T>C | |
| ENST00000538586.5:c.-14-3620T>C | ENSP00000440194.1:n.-14-3620T>C | |
| ENST00000539107.5:c.-14-3620T>C | ENSP00000440513.1:n.-14-3620T>C | |
| ENST00000540794.5:c.42+69743T>C | ENSP00000441714.1:n.42+69743T>C | |
| ENST00000543534.5:c.-96-1999T>C | ENSP00000446045.1:n.-96-1999T>C | |
| ENST00000544649.5:n.199-52067T>C | ||
| ENST00000544780.5:n.418-1980T>C | ||
| ENST00000545336.5:c.-96-1999T>C | ENSP00000438040.1:n.-96-1999T>C | |
| XM_005253413.1:c.-14-3620T>C | XP_005253470.1:n.-14-3620T>C | |
| XM_006719104.2:c.-96-1999T>C | XP_006719167.1:n.-96-1999T>C | |
| XM_006719105.1:c.-96-1999T>C | XP_006719168.1:n.-96-1999T>C | |
| XM_011520728.1:c.-96-1999T>C | XP_011519030.1:n.-96-1999T>C | |
| XM_011520729.1:c.-14-3620T>C | XP_011519031.1:n.-14-3620T>C | |
| XM_011520730.1:c.-96-1999T>C | XP_011519032.1:n.-96-1999T>C | |
| XM_011520734.1:c.-377-52067T>C | XP_011519036.1:n.-377-52067T>C | |
| XM_011520735.1:c.-350-52067T>C | XP_011519037.1:n.-350-52067T>C | |
| NM_001330367.1:c.-14-3620T>C | NP_001317296.1:n.-14-3620T>C | |
| NM_001352078.1:c.-96-1999T>C | NP_001339007.1:n.-96-1999T>C | |
| NM_001352079.1:c.-96-1999T>C | NP_001339008.1:n.-96-1999T>C | |
| NM_001352080.1:c.-14-3620T>C | NP_001339009.1:n.-14-3620T>C | |
| NM_001352081.1:c.-14-3620T>C | NP_001339010.1:n.-14-3620T>C | |
| NM_001352082.1:c.-14-3620T>C | NP_001339011.1:n.-14-3620T>C | |
| NM_001352083.1:c.-14-3620T>C | NP_001339012.1:n.-14-3620T>C | |
| NM_001352084.1:c.-14-3620T>C | NP_001339013.1:n.-14-3620T>C | |
| NM_001352086.1:c.-190-3620T>C | NP_001339015.1:n.-190-3620T>C | |
| NM_001352087.1:c.-377-52067T>C | NP_001339016.1:n.-377-52067T>C | |
| NM_018318.4:c.-14-3620T>C | NP_060788.3:n.-14-3620T>C | |
| XM_006719104.3:c.-96-1999T>C | XP_006719167.1:n.-96-1999T>C | |
| XM_017019569.1:c.-14-3620T>C | XP_016875058.1:n.-14-3620T>C | |
| XM_017019572.1:c.-14-3620T>C | XP_016875061.1:n.-14-3620T>C | |
| XM_017019574.2:c.-190-3620T>C | XP_016875063.1:n.-190-3620T>C | |
| XM_024449032.1:c.-96-1999T>C | XP_024304800.1:n.-96-1999T>C | |
| XM_024449033.1:c.-96-1999T>C | XP_024304801.1:n.-96-1999T>C | |
| XM_024449034.1:c.-96-1999T>C | XP_024304802.1:n.-96-1999T>C | |
| XM_024449036.1:c.-96-1999T>C | XP_024304804.1:n.-96-1999T>C | |
| XM_024449037.1:c.-96-1999T>C | XP_024304805.1:n.-96-1999T>C | |
| XM_024449039.1:c.-190-3620T>C | XP_024304807.1:n.-190-3620T>C | |
| NM_001330367.2:c.-14-3620T>C | NP_001317296.1:n.-14-3620T>C | |
| NM_001352078.2:c.-96-1999T>C | NP_001339007.1:n.-96-1999T>C | |
| NM_001352079.2:c.-96-1999T>C | NP_001339008.1:n.-96-1999T>C | |
| NM_001352080.2:c.-14-3620T>C | NP_001339009.1:n.-14-3620T>C | |
| NM_001352081.2:c.-14-3620T>C | NP_001339010.1:n.-14-3620T>C | |
| NM_001352082.2:c.-14-3620T>C | NP_001339011.1:n.-14-3620T>C | |
| NM_001352083.2:c.-14-3620T>C | NP_001339012.1:n.-14-3620T>C | |
| NM_001352084.2:c.-14-3620T>C | NP_001339013.1:n.-14-3620T>C | |
| NM_001352086.2:c.-190-3620T>C | NP_001339015.1:n.-190-3620T>C | |
| NM_001352087.2:c.-377-52067T>C | NP_001339016.1:n.-377-52067T>C | |
| NM_018318.5:c.-14-3620T>C MANE Select | NP_060788.3:n.-14-3620T>C | |
| NM_001387000.1:c.-96-1999T>C | NP_001373929.1:n.-96-1999T>C |