gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23105486 (MID)
Genomes Max Group AF
0.22264969 (NFE)
Exomes Max Group AF
0.23299565 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84887738C>T , CM000677.2:g.84887738C>T | GRCh38 |
| NC_000015.9:g.85430969C>T , CM000677.1:g.85430969C>T | GRCh37 |
| NC_000015.8:g.83231973C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394573.6:c.-16-7C>T MANE Select | ENSP00000378074.1:n.-16-7C>T | |
| ENST00000286749.3:c.-16-7C>T | ENSP00000286749.3:n.-16-7C>T | |
| ENST00000338602.6:c.-16-7C>T | ENSP00000341629.2:n.-16-7C>T | |
| ENST00000394573.5:c.-16-7C>T | ENSP00000378074.1:n.-16-7C>T | |
| ENST00000538177.5:c.-16-7C>T | ENSP00000443752.1:n.-16-7C>T | |
| NM_001287761.1:c.-16-7C>T | NP_001274690.1:n.-16-7C>T | |
| NM_001287762.1:c.-16-7C>T | NP_001274691.1:n.-16-7C>T | |
| NM_004213.4:c.-16-7C>T | NP_004204.3:n.-16-7C>T | |
| NM_201651.2:c.-16-7C>T | NP_964014.1:n.-16-7C>T | |
| XM_011522203.1:c.-16-7C>T | XP_011520505.1:n.-16-7C>T | |
| XM_011522204.1:c.-16-7C>T | XP_011520506.1:n.-16-7C>T | |
| XM_011522205.1:c.-16-7C>T | XP_011520507.1:n.-16-7C>T | |
| XM_011522206.1:c.-16-7C>T | XP_011520508.1:n.-16-7C>T | |
| XM_011522207.1:c.-16-7C>T | XP_011520509.1:n.-16-7C>T | |
| XM_011522208.1:c.47-7C>T | XP_011520510.1:n.47-7C>T | |
| XM_011522209.1:c.-16-7C>T | XP_011520511.1:n.-16-7C>T | |
| XM_011522210.1:c.-16-7C>T | XP_011520512.1:n.-16-7C>T | |
| XM_011522211.1:c.-161-7C>T | XP_011520513.1:n.-161-7C>T | |
| XM_011522212.1:c.-16-7C>T | XP_011520514.1:n.-16-7C>T | |
| XM_011522213.1:c.-16-7C>T | XP_011520515.1:n.-16-7C>T | |
| XM_011522214.1:c.-16-7C>T | XP_011520516.1:n.-16-7C>T | |
| XM_011522215.1:c.-16-7C>T | XP_011520517.1:n.-16-7C>T | |
| XM_011522216.1:c.-161-7C>T | XP_011520518.1:n.-161-7C>T | |
| XM_011522217.1:c.-16-7C>T | XP_011520519.1:n.-16-7C>T | |
| XM_011522218.1:c.-16-7C>T | XP_011520520.1:n.-16-7C>T | |
| XR_931944.1:n.191-7C>T | ||
| XR_931945.1:n.191-7C>T | ||
| NM_001321721.1:c.-16-7C>T | NP_001308650.1:n.-16-7C>T | |
| NM_001321722.1:c.-16-7C>T | NP_001308651.1:n.-16-7C>T | |
| XM_011522203.2:c.-16-7C>T | XP_011520505.1:n.-16-7C>T | |
| XM_011522204.3:c.-16-7C>T | XP_011520506.1:n.-16-7C>T | |
| XM_011522205.3:c.-16-7C>T | XP_011520507.1:n.-16-7C>T | |
| XM_011522206.3:c.-16-7C>T | XP_011520508.1:n.-16-7C>T | |
| XM_011522208.3:c.47-7C>T | XP_011520510.1:n.47-7C>T | |
| XM_011522209.2:c.-16-7C>T | XP_011520511.1:n.-16-7C>T | |
| XM_011522210.2:c.-16-7C>T | XP_011520512.1:n.-16-7C>T | |
| XM_011522211.3:c.-161-7C>T | XP_011520513.1:n.-161-7C>T | |
| XM_011522214.2:c.-16-7C>T | XP_011520516.1:n.-16-7C>T | |
| XM_011522215.2:c.-16-7C>T | XP_011520517.1:n.-16-7C>T | |
| XM_011522216.2:c.-161-7C>T | XP_011520518.1:n.-161-7C>T | |
| XM_011522218.2:c.-16-7C>T | XP_011520520.1:n.-16-7C>T | |
| XM_017022723.1:c.-16-7C>T | XP_016878212.1:n.-16-7C>T | |
| XM_024450099.1:c.-16-7C>T | XP_024305867.1:n.-16-7C>T | |
| XM_024450100.1:c.-16-7C>T | XP_024305868.1:n.-16-7C>T | |
| XM_024450101.1:c.-16-7C>T | XP_024305869.1:n.-16-7C>T | |
| XM_024450102.1:c.-1163-7C>T | XP_024305870.1:n.-1163-7C>T | |
| XR_002957690.1:n.191-7C>T | ||
| XR_931944.2:n.191-7C>T | ||
| XR_931945.2:n.191-7C>T | ||
| NM_004213.5:c.-16-7C>T MANE Select | NP_004204.3:n.-16-7C>T | |
| NM_001287762.2:c.-16-7C>T | NP_001274691.1:n.-16-7C>T | |
| NM_001321721.2:c.-16-7C>T | NP_001308650.1:n.-16-7C>T | |
| NM_001321722.2:c.-16-7C>T | NP_001308651.1:n.-16-7C>T | |
| NM_201651.3:c.-16-7C>T | NP_964014.1:n.-16-7C>T | |
| NM_001287761.2:c.-16-7C>T | NP_001274690.1:n.-16-7C>T |