gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01961416 (MID)
Genomes Max Group AF
0.00992607 (AMR)
Exomes Max Group AF
0.01847296 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173233001C>T , CM000667.2:g.173233001C>T | GRCh38 |
| NC_000005.9:g.172660004C>T , CM000667.1:g.172660004C>T | GRCh37 |
| NC_000005.8:g.172592610C>T | NCBI36 |
| NG_013340.1:g.7312G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.543G>A MANE Select | ENSP00000327758.4:p.Gln181= | |
| ENST00000329198.4:c.543G>A | ENSP00000327758.4:p.Gln181= | |
| ENST00000424406.2:c.*496G>A | ENSP00000395378.2:n.*496G>A | |
| ENST00000521848.1:c.*342G>A | ENSP00000427906.1:n.*342G>A | |
| NM_001166175.1:c.*496G>A | NP_001159647.1:n.*496G>A | |
| NM_001166176.1:c.*342G>A | NP_001159648.1:n.*342G>A | |
| NM_004387.3:c.543G>A | NP_004378.1:p.Gln181= | |
| NM_004387.4:c.543G>A MANE Select | NP_004378.1:p.Gln181= | |
| NM_001166175.2:c.*496G>A | NP_001159647.1:n.*496G>A | |
| NM_001166176.2:c.*342G>A | NP_001159648.1:n.*342G>A |