ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02531999 (SAS)
Genomes Max Group AF
0.02664121 (SAS)
Exomes Max Group AF
0.02504869 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151799G>A , CM000681.2:g.55151799G>A | GRCh38 |
| NC_000019.9:g.55663167G>A , CM000681.1:g.55663167G>A | GRCh37 |
| NC_000019.8:g.60354979G>A | NCBI36 |
| NG_007866.2:g.10934C>T , LRG_432:g.10934C>T | |
| NG_011829.2:g.2440C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.*35C>T MANE Select | ENSP00000341838.5:n.*35C>T | |
| ENST00000665070.1:c.*35C>T | ENSP00000499482.1:n.*35C>T | |
| ENST00000344887.9:c.*35C>T | ENSP00000341838.5:n.*35C>T | |
| ENST00000585806.5:n.667C>T | ||
| ENST00000588882.1:c.*35C>T | ENSP00000466729.1:n.*35C>T | |
| ENST00000589864.1:n.496C>T | ||
| NM_000363.4:c.*35C>T , LRG_432t1:c.*35C>T | NP_000354.4:n.*35C>T | |
| NM_000363.5:c.*35C>T MANE Select | NP_000354.4:n.*35C>T |