gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20442111 (AFR)
Genomes Max Group AF
0.20442111 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.6767374C>T , CM000678.2:g.6767374C>T | GRCh38 |
| NC_000016.9:g.6817375C>T , CM000678.1:g.6817375C>T | GRCh37 |
| NC_000016.8:g.6757376C>T | NCBI36 |
| NG_011881.1:g.753244C>T | |
| NG_011881.2:g.1532623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550418.6:c.-16+112724C>T MANE Select | ENSP00000450031.1:n.-16+112724C>T | |
| ENST00000569895.3:n.548-8359C>T | ||
| ENST00000641259.1:c.462+112724C>T | ENSP00000493041.1:n.462+112724C>T | |
| ENST00000675140.1:n.576-109288C>T | ||
| ENST00000675459.1:c.-97-109288C>T | ENSP00000502616.1:n.-97-109288C>T | |
| ENST00000675653.1:c.-97-109288C>T | ENSP00000502718.1:n.-97-109288C>T | |
| ENST00000675842.1:c.-294-8359C>T | ENSP00000501599.1:n.-294-8359C>T | |
| ENST00000422070.8:c.114+112724C>T | ENSP00000391269.4:n.114+112724C>T | |
| ENST00000535565.6:c.93+112724C>T | ENSP00000438768.2:n.93+112724C>T | |
| ENST00000547372.5:c.114+112724C>T | ENSP00000446842.1:n.114+112724C>T | |
| ENST00000547427.5:n.269+112724C>T | ||
| ENST00000547605.5:c.-16+112724C>T | ENSP00000450402.1:n.-16+112724C>T | |
| ENST00000550418.5:c.-16+112724C>T | ENSP00000450031.1:n.-16+112724C>T | |
| ENST00000551752.5:c.-16+112724C>T | ENSP00000447281.1:n.-16+112724C>T | |
| ENST00000552089.5:c.93+112724C>T | ENSP00000448496.1:n.93+112724C>T | |
| ENST00000553186.5:c.-16+112724C>T | ENSP00000447753.1:n.-16+112724C>T | |
| NM_001142333.1:c.-16+112724C>T | NP_001135805.1:n.-16+112724C>T | |
| NM_001308117.1:c.114+112724C>T | NP_001295046.1:n.114+112724C>T | |
| NM_018723.3:c.-16+112724C>T | NP_061193.2:n.-16+112724C>T | |
| XM_005255379.2:c.114+112724C>T | XP_005255436.1:n.114+112724C>T | |
| XM_005255380.2:c.93+112724C>T | XP_005255437.1:n.93+112724C>T | |
| XM_005255384.2:c.-16+112724C>T | XP_005255441.1:n.-16+112724C>T | |
| XM_005255385.3:c.-16+112724C>T | XP_005255442.1:n.-16+112724C>T | |
| XM_005255390.2:c.-16+112724C>T | XP_005255447.1:n.-16+112724C>T | |
| XM_005255391.2:c.-16+112724C>T | XP_005255448.1:n.-16+112724C>T | |
| XM_011522544.1:c.462+112724C>T | XP_011520846.1:n.462+112724C>T | |
| NM_001364800.1:c.-16+112724C>T | NP_001351729.1:n.-16+112724C>T | |
| XM_005255390.4:c.-16+112724C>T | XP_005255447.1:n.-16+112724C>T | |
| XM_005255391.4:c.-16+112724C>T | XP_005255448.1:n.-16+112724C>T | |
| XM_017023318.2:c.582+112724C>T | XP_016878807.1:n.582+112724C>T | |
| XM_017023319.2:c.582+112724C>T | XP_016878808.1:n.582+112724C>T | |
| XM_017023320.2:c.114+112724C>T | XP_016878809.1:n.114+112724C>T | |
| XM_017023321.2:c.93+112724C>T | XP_016878810.1:n.93+112724C>T | |
| XM_017023322.2:c.93+112724C>T | XP_016878811.1:n.93+112724C>T | |
| XM_017023324.2:c.114+112724C>T | XP_016878813.1:n.114+112724C>T | |
| XM_017023326.2:c.-16+112724C>T | XP_016878815.1:n.-16+112724C>T | |
| XM_017023328.2:c.114+112724C>T | XP_016878817.1:n.114+112724C>T | |
| XM_017023329.2:c.114+112724C>T | XP_016878818.1:n.114+112724C>T | |
| XM_017023330.1:c.93+112724C>T | XP_016878819.1:n.93+112724C>T | |
| XM_017023333.1:c.-16+112724C>T | XP_016878822.1:n.-16+112724C>T | |
| XM_017023335.2:c.-16+112724C>T | XP_016878824.1:n.-16+112724C>T | |
| XM_017023336.1:c.-16+112724C>T | XP_016878825.1:n.-16+112724C>T | |
| XM_017023338.1:c.-16+112724C>T | XP_016878827.1:n.-16+112724C>T | |
| XM_017023340.1:c.-16+112724C>T | XP_016878829.1:n.-16+112724C>T | |
| XM_017023341.2:c.-16+112724C>T | XP_016878830.1:n.-16+112724C>T | |
| XM_017023342.1:c.-16+112724C>T | XP_016878831.1:n.-16+112724C>T | |
| XM_024450303.1:c.543+112724C>T | XP_024306071.1:n.543+112724C>T | |
| XM_024450304.1:c.93+112724C>T | XP_024306072.1:n.93+112724C>T | |
| XM_024450305.1:c.93+112724C>T | XP_024306073.1:n.93+112724C>T | |
| XM_024450307.1:c.-16+112724C>T | XP_024306075.1:n.-16+112724C>T | |
| XM_024450309.1:c.114+112724C>T | XP_024306077.1:n.114+112724C>T | |
| XM_024450310.1:c.114+112724C>T | XP_024306078.1:n.114+112724C>T | |
| XM_024450311.1:c.93+112724C>T | XP_024306079.1:n.93+112724C>T | |
| XM_024450312.1:c.93+112724C>T | XP_024306080.1:n.93+112724C>T | |
| XM_024450313.1:c.93+112724C>T | XP_024306081.1:n.93+112724C>T | |
| XM_024450314.1:c.114+112724C>T | XP_024306082.1:n.114+112724C>T | |
| XM_024450316.1:c.-16+112724C>T | XP_024306084.1:n.-16+112724C>T | |
| NM_001142333.2:c.-16+112724C>T | NP_001135805.1:n.-16+112724C>T | |
| NM_001364800.2:c.-16+112724C>T | NP_001351729.1:n.-16+112724C>T | |
| NM_018723.4:c.-16+112724C>T MANE Select | NP_061193.2:n.-16+112724C>T |