gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93849961 (EAS)
Genomes Max Group AF
0.93849961 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.184433820T>A , CM000666.2:g.184433820T>A | GRCh38 |
| NC_000004.11:g.185354974T>A , CM000666.1:g.185354974T>A | GRCh37 |
| NC_000004.10:g.185591968T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502750.2:c.-6-4750A>T | ENSP00000423074.2:n.-6-4750A>T | |
| ENST00000504340.2:c.-6-4750A>T | ENSP00000512878.1:n.-6-4750A>T | |
| ENST00000505067.6:c.-6-4750A>T | ENSP00000421927.2:n.-6-4750A>T | |
| ENST00000510814.6:c.-6-4750A>T | ENSP00000424552.2:n.-6-4750A>T | |
| ENST00000696840.1:c.-6-4750A>T | ENSP00000512918.1:n.-6-4750A>T | |
| ENST00000696841.1:c.-6-4750A>T | ENSP00000512954.1:n.-6-4750A>T | |
| ENST00000696842.1:c.-6-4750A>T | ENSP00000512919.1:n.-6-4750A>T | |
| ENST00000696843.1:c.-6-4750A>T | ENSP00000512920.1:n.-6-4750A>T | |
| ENST00000696844.1:c.-6-4750A>T | ENSP00000512921.1:n.-6-4750A>T | |
| ENST00000696845.1:c.-6-4750A>T | ENSP00000512922.1:n.-6-4750A>T | |
| ENST00000696846.1:c.-6-4750A>T | ENSP00000512923.1:n.-6-4750A>T | |
| ENST00000696848.1:c.-6-4750A>T | ENSP00000512924.1:n.-6-4750A>T | |
| ENST00000696849.1:c.-6-4750A>T | ENSP00000512925.1:n.-6-4750A>T | |
| ENST00000696850.1:c.-6-4750A>T | ENSP00000512926.1:n.-6-4750A>T | |
| ENST00000696851.1:c.-6-4750A>T | ENSP00000512927.1:n.-6-4750A>T | |
| ENST00000696852.1:c.-6-4750A>T | ENSP00000512928.1:n.-6-4750A>T | |
| ENST00000696853.1:c.-6-4750A>T | ENSP00000512929.1:n.-6-4750A>T | |
| ENST00000393593.8:c.-6-4750A>T MANE Select | ENSP00000377218.3:n.-6-4750A>T | |
| ENST00000393593.7:c.-6-4750A>T | ENSP00000377218.3:n.-6-4750A>T | |
| ENST00000506230.5:c.-6-4750A>T | ENSP00000422860.1:n.-6-4750A>T | |
| ENST00000507523.5:c.-6-4750A>T | ENSP00000427204.1:n.-6-4750A>T | |
| ENST00000509274.1:c.-6-4750A>T | ENSP00000425037.1:n.-6-4750A>T | |
| ENST00000510814.5:c.-6-4750A>T | ENSP00000424552.1:n.-6-4750A>T | |
| ENST00000512020.5:n.171-4750A>T | ||
| NM_002199.3:c.-6-4750A>T | NP_002190.2:n.-6-4750A>T | |
| XM_005262984.1:c.-6-4750A>T | XP_005263041.1:n.-6-4750A>T | |
| XM_011531928.1:c.-6-4750A>T | XP_011530230.1:n.-6-4750A>T | |
| XM_011531929.1:c.-6-4750A>T | XP_011530231.1:n.-6-4750A>T | |
| XM_024454034.1:c.-6-4750A>T | XP_024309802.1:n.-6-4750A>T | |
| XM_024454035.1:c.-6-4750A>T | XP_024309803.1:n.-6-4750A>T | |
| XM_024454036.1:c.-6-4750A>T | XP_024309804.1:n.-6-4750A>T | |
| XM_024454037.1:c.-6-4750A>T | XP_024309805.1:n.-6-4750A>T | |
| XM_024454038.1:c.-6-4750A>T | XP_024309806.1:n.-6-4750A>T | |
| XM_024454039.1:c.-6-4750A>T | XP_024309807.1:n.-6-4750A>T | |
| NM_002199.4:c.-6-4750A>T MANE Select | NP_002190.2:n.-6-4750A>T |