gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010543 (NFE)
Genomes Max Group AF
0.00005841 (NFE)
Exomes Max Group AF
0.00010549 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394936A>T , CM000675.2:g.32394936A>T | GRCh38 |
| NC_000013.10:g.32969073A>T , CM000675.1:g.32969073A>T | GRCh37 |
| NC_000013.9:g.31867073A>T | NCBI36 |
| NG_012772.3:g.84457A>T , LRG_293:g.84457A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9501+3A>T | ENSP00000434898.2:n.9501+3A>T | |
| ENST00000528762.2:c.*868+3A>T | ENSP00000433168.2:n.*868+3A>T | |
| ENST00000530893.7:c.9132+3A>T | ENSP00000499438.2:n.9132+3A>T | |
| ENST00000665585.2:c.*1063+3A>T | ENSP00000499570.2:n.*1063+3A>T | |
| ENST00000700202.2:c.9450+3A>T | ENSP00000514856.2:n.9450+3A>T | |
| ENST00000700202.1:c.1917+3A>T | ENSP00000514856.1:n.1917+3A>T | |
| ENST00000700203.1:n.1628+3A>T | ||
| ENST00000380152.8:c.9501+3A>T MANE Select | ENSP00000369497.3:n.9501+3A>T | |
| ENST00000544455.6:c.9501+3A>T | ENSP00000439902.1:n.9501+3A>T | |
| ENST00000614259.2:c.9509+3A>T | ENSP00000506251.1:n.9509+3A>T | |
| ENST00000665585.1:c.2379+3A>T | ||
| ENST00000680887.1:c.9501+3A>T | ENSP00000505508.1:n.9501+3A>T | |
| ENST00000380152.7:c.9501+3A>T | ENSP00000369497.3:n.9501+3A>T | |
| ENST00000470094.1:c.458+3A>T | ||
| ENST00000544455.5:c.9501+3A>T | ENSP00000439902.1:n.9501+3A>T | |
| NM_000059.3:c.9501+3A>T , LRG_293t1:c.9501+3A>T | NP_000050.2:n.9501+3A>T | |
| XM_011535203.1:c.9501+3A>T | XP_011533505.1:n.9501+3A>T | |
| XM_011535204.1:c.9405+3A>T | XP_011533506.1:n.9405+3A>T | |
| NM_000059.4:c.9501+3A>T MANE Select | NP_000050.3:n.9501+3A>T |