gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83368496 (NFE)
Genomes Max Group AF
0.83368496 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68836409G>T , CM000674.2:g.68836409G>T | GRCh38 |
| NC_000012.11:g.69230189G>T , CM000674.1:g.69230189G>T | GRCh37 |
| NC_000012.10:g.67516456G>T | NCBI36 |
| NG_016708.1:g.33219G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258149.11:c.841-263G>T MANE Select | ENSP00000258149.6:n.841-263G>T | |
| ENST00000258149.10:c.841-263G>T | ENSP00000258149.6:n.841-263G>T | |
| ENST00000348801.7:c.223+425G>T | ||
| ENST00000393416.7:c.916-263G>T | ENSP00000377068.3:n.916-263G>T | |
| ENST00000393417.8:c.*697-263G>T | ENSP00000429021.3:n.*697-263G>T | |
| ENST00000478070.2:c.118-2865G>T | ||
| ENST00000481186.6:c.404-263G>T | ||
| ENST00000539479.6:c.823-263G>T | ENSP00000444430.2:n.823-263G>T | |
| ENST00000544561.6:c.715-263G>T | ENSP00000441841.2:n.715-263G>T | |
| ENST00000545204.2:c.179-2865G>T | ENSP00000444597.2:n.179-2865G>T | |
| ENST00000665020.1:c.707-263G>T | ENSP00000499718.1:n.707-263G>T | |
| ENST00000666617.1:c.734-263G>T | ENSP00000499763.1:n.734-263G>T | |
| ENST00000671567.1:c.762-263G>T | ENSP00000499407.1:n.762-263G>T | |
| ENST00000258148.11:c.676-263G>T | ENSP00000258148.7:n.676-263G>T | |
| ENST00000258149.9:c.841-263G>T | ENSP00000258149.6:n.841-263G>T | |
| ENST00000299252.8:c.313-263G>T | ENSP00000299252.4:n.313-263G>T | |
| ENST00000311420.13:c.*452-263G>T | ENSP00000310742.9:n.*452-263G>T | |
| ENST00000348801.6:c.222+425G>T | ENSP00000335096.3:n.222+425G>T | |
| ENST00000350057.9:c.748-263G>T | ENSP00000266624.9:n.748-263G>T | |
| ENST00000356290.8:c.313-263G>T | ENSP00000348637.4:n.313-263G>T | |
| ENST00000360430.6:c.238-263G>T | ENSP00000353611.2:n.238-263G>T | |
| ENST00000393410.5:c.157-2865G>T | ENSP00000377062.1:n.157-2865G>T | |
| ENST00000393412.7:c.157-2865G>T | ENSP00000377064.4:n.157-2865G>T | |
| ENST00000393413.7:c.82-2865G>T | ENSP00000377065.3:n.82-2865G>T | |
| ENST00000393415.7:c.682-263G>T | ENSP00000377067.3:n.682-263G>T | |
| ENST00000393417.7:c.*697-263G>T | ENSP00000429021.2:n.*697-263G>T | |
| ENST00000428863.6:c.506-3214G>T | ENSP00000410694.3:n.506-3214G>T | |
| ENST00000462284.5:c.748-263G>T | ENSP00000417281.2:n.748-263G>T | |
| ENST00000478070.1:c.117-2865G>T | ENSP00000430906.1:n.117-2865G>T | |
| ENST00000481186.5:c.403-263G>T | ENSP00000431110.1:n.403-263G>T | |
| ENST00000496959.5:c.322-2865G>T | ENSP00000429692.1:n.322-2865G>T | |
| ENST00000517852.5:c.157-3204G>T | ENSP00000430257.1:n.157-3204G>T | |
| ENST00000523991.5:c.313-263G>T | ENSP00000427828.1:n.313-263G>T | |
| ENST00000536089.5:c.528-263G>T | ENSP00000444028.1:n.528-263G>T | |
| ENST00000537182.5:c.436-2865G>T | ENSP00000443450.1:n.436-2865G>T | |
| ENST00000540352.5:c.662-263G>T | ENSP00000445030.1:n.662-263G>T | |
| ENST00000542502.5:c.474-263G>T | ENSP00000444566.1:n.474-263G>T | |
| ENST00000543323.5:c.312+425G>T | ENSP00000439238.1:n.312+425G>T | |
| ENST00000544561.5:c.184-3353G>T | ENSP00000441841.1:n.184-3353G>T | |
| ENST00000545204.1:c.88-3130G>T | ENSP00000444597.1:n.88-3130G>T | |
| ENST00000546048.5:c.289-3366G>T | ENSP00000445222.1:n.289-3366G>T | |
| NM_001145337.2:c.682-263G>T | NP_001138809.1:n.682-263G>T | |
| NM_001145339.2:c.676-263G>T | NP_001138811.1:n.676-263G>T | |
| NM_001145340.2:c.312+425G>T | NP_001138812.1:n.312+425G>T | |
| NM_001278462.1:c.313-263G>T | NP_001265391.1:n.313-263G>T | |
| NM_002392.5:c.841-263G>T | NP_002383.2:n.841-263G>T | |
| XM_005268872.3:c.823-263G>T | XP_005268929.1:n.823-263G>T | |
| XM_006719399.2:c.640-263G>T | XP_006719462.1:n.640-263G>T | |
| XM_006719400.2:c.520-263G>T | XP_006719463.1:n.520-263G>T | |
| XM_005268872.5:c.823-263G>T | XP_005268929.1:n.823-263G>T | |
| XM_006719399.4:c.640-263G>T | XP_006719462.1:n.640-263G>T | |
| XM_006719400.4:c.520-263G>T | XP_006719463.1:n.520-263G>T | |
| NM_001145337.3:c.682-263G>T | NP_001138809.1:n.682-263G>T | |
| NM_001145340.3:c.312+425G>T | NP_001138812.1:n.312+425G>T | |
| NM_001278462.2:c.313-263G>T | NP_001265391.1:n.313-263G>T | |
| NM_001367990.1:c.823-263G>T | NP_001354919.1:n.823-263G>T | |
| NM_002392.6:c.841-263G>T MANE Select | NP_002383.2:n.841-263G>T |