gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001724 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00001543 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29223491C>T , CM000664.2:g.29223491C>T | GRCh38 |
| NC_000002.11:g.29446357C>T , CM000664.1:g.29446357C>T | GRCh37 |
| NC_000002.10:g.29299861C>T | NCBI36 |
| NG_009445.1:g.703076G>A , LRG_488:g.703076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3210G>A MANE Select | ENSP00000373700.3:p.Gln1070= | |
| ENST00000431873.6:c.437G>A | ||
| ENST00000638605.1:n.87G>A | ||
| ENST00000642122.1:c.6G>A | ENSP00000493203.1:p.Gln2= | |
| ENST00000389048.7:c.3210G>A | ENSP00000373700.3:p.Gln1070= | |
| ENST00000431873.5:c.90G>A | ENSP00000414027.2:p.Gln30= | |
| ENST00000618119.4:c.2079G>A | ENSP00000482733.1:p.Gln693= | |
| NM_004304.4:c.3210G>A | NP_004295.2:p.Gln1070= | |
| NM_001353765.1:c.6G>A | NP_001340694.1:p.Gln2= | |
| XM_024452778.1:c.363G>A | XP_024308546.1:p.Gln121= | |
| XM_024452779.1:c.6G>A | XP_024308547.1:p.Gln2= | |
| XR_001738688.2:n.4066G>A | ||
| NM_004304.5:c.3210G>A MANE Select | NP_004295.2:p.Gln1070= | |
| NM_001353765.2:c.6G>A | NP_001340694.1:p.Gln2= |