gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001539 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001466 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45489500G>T , CM000683.2:g.45489500G>T | GRCh38 |
| NC_000021.8:g.46909414G>T , CM000683.1:g.46909414G>T | GRCh37 |
| NC_000021.7:g.45733842G>T | NCBI36 |
| NG_011903.1:g.89318G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.2478G>T | ENSP00000347665.5:p.Val826= | |
| ENST00000651438.1:c.1938G>T MANE Select | ENSP00000498485.1:p.Val646= | |
| ENST00000355480.9:c.2478G>T | ENSP00000347665.5:p.Val826= | |
| ENST00000359759.8:c.3183G>T | ENSP00000352798.4:p.Val1061= | |
| ENST00000400337.6:c.1938G>T | ENSP00000383191.2:p.Val646= | |
| NM_030582.3:c.2478G>T | NP_085059.2:p.Val826= | |
| NM_130444.2:c.3183G>T | NP_569711.2:p.Val1061= | |
| NM_130445.3:c.1938G>T | NP_569712.2:p.Val646= | |
| NM_030582.4:c.2478G>T | NP_085059.2:p.Val826= | |
| NM_130444.3:c.3183G>T | NP_569711.2:p.Val1061= | |
| NM_130445.4:c.1938G>T | NP_569712.2:p.Val646= | |
| NM_001379500.1:c.1938G>T MANE Select | NP_001366429.1:p.Val646= |