gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81510435 (EAS)
Genomes Max Group AF
0.81510435 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119833296T>A , CM000674.2:g.119833296T>A | GRCh38 |
| NC_000012.11:g.120271100T>A , CM000674.1:g.120271100T>A | GRCh37 |
| NC_000012.10:g.118755483T>A | NCBI36 |
| NG_029792.1:g.48996A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392521.7:c.660-432A>T MANE Select | ENSP00000376306.2:n.660-432A>T | |
| ENST00000261833.11:c.660-432A>T | ENSP00000261833.7:n.660-432A>T | |
| ENST00000392521.6:c.660-432A>T | ENSP00000376306.2:n.660-432A>T | |
| ENST00000536325.1:c.267+16878A>T | ENSP00000443199.1:n.267+16878A>T | |
| ENST00000612548.4:c.660-432A>T | ENSP00000482318.1:n.660-432A>T | |
| NM_001206999.1:c.660-432A>T | NP_001193928.1:n.660-432A>T | |
| NM_007174.2:c.660-432A>T | NP_009105.1:n.660-432A>T | |
| XM_006719206.2:c.660-432A>T | XP_006719269.1:n.660-432A>T | |
| XM_011537783.1:c.660-432A>T | XP_011536085.1:n.660-432A>T | |
| XM_011537784.1:c.660-432A>T | XP_011536086.1:n.660-432A>T | |
| XM_011537785.1:c.660-432A>T | XP_011536087.1:n.660-432A>T | |
| XM_011537786.1:c.660-432A>T | XP_011536088.1:n.660-432A>T | |
| XM_011537787.1:c.660-432A>T | XP_011536089.1:n.660-432A>T | |
| XM_011537788.1:c.660-432A>T | XP_011536090.1:n.660-432A>T | |
| XM_017018735.1:c.660-432A>T | XP_016874224.1:n.660-432A>T | |
| XM_017018736.1:c.660-432A>T | XP_016874225.1:n.660-432A>T | |
| XM_017018737.1:c.660-432A>T | XP_016874226.1:n.660-432A>T | |
| NM_001206999.2:c.660-432A>T MANE Select | NP_001193928.1:n.660-432A>T | |
| NM_007174.3:c.660-432A>T | NP_009105.1:n.660-432A>T |