gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00102324 (AFR)
Genomes Max Group AF
0.00115016 (AFR)
Exomes Max Group AF
0.00069572 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40397386C>A , CM000681.2:g.40397386C>A | GRCh38 |
| NC_000019.9:g.40903293C>A , CM000681.1:g.40903293C>A | GRCh37 |
| NC_000019.8:g.45595133C>A | NCBI36 |
| NG_007979.1:g.20979G>T , LRG_265:g.20979G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.966G>T MANE Select | ENSP00000326018.6:p.Val322= | |
| ENST00000673881.1:c.549G>T | ENSP00000501070.1:p.Val183= | |
| ENST00000674005.2:c.1251G>T | ENSP00000501261.1:p.Val417= | |
| ENST00000674773.1:c.549G>T | ENSP00000502579.1:p.Val183= | |
| ENST00000675517.1:c.841G>T | ||
| ENST00000676076.1:c.827G>T | ||
| ENST00000676260.1:c.928G>T | ||
| ENST00000676316.1:c.853G>T | ||
| ENST00000291825.11:c.*1171G>T | ENSP00000291825.6:n.*1171G>T | |
| ENST00000324001.7:c.966G>T | ENSP00000326018.6:p.Val322= | |
| NM_020956.2:c.*1171G>T , LRG_265t1:c.*1171G>T | NP_066007.1:n.*1171G>T | |
| NM_181882.2:c.966G>T , LRG_265t2:c.966G>T | NP_870998.2:p.Val322= | |
| XM_011527171.1:c.966G>T | XP_011525473.1:p.Val322= | |
| XM_011527171.2:c.966G>T | XP_011525473.1:p.Val322= | |
| XM_017027046.1:c.864G>T | XP_016882535.1:p.Val288= | |
| XM_017027047.1:c.864G>T | XP_016882536.1:p.Val288= | |
| NM_181882.3:c.966G>T MANE Select | NP_870998.2:p.Val322= |