gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020956 (NFE)
Genomes Max Group AF
0.00011224 (NFE)
Exomes Max Group AF
0.00021063 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68937012G>T , CM000673.2:g.68937012G>T | GRCh38 |
| NC_000011.9:g.68704480G>T , CM000673.1:g.68704480G>T | GRCh37 |
| NC_000011.8:g.68461056G>T | NCBI36 |
| NG_007976.1:g.38162G>T , LRG_250:g.38162G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2532G>T MANE Select | ENSP00000255078.4:p.Ala844= | |
| ENST00000674675.1:c.677G>T | ||
| ENST00000674878.1:c.637G>T | ||
| ENST00000675118.1:c.2020G>T | ||
| ENST00000675389.1:n.807G>T | ||
| ENST00000675615.1:c.2532G>T | ENSP00000502413.1:p.Ala844= | |
| ENST00000675648.1:n.1907G>T | ||
| ENST00000675916.1:c.776G>T | ||
| ENST00000676173.1:n.3277G>T | ||
| ENST00000676182.1:c.963G>T | ||
| ENST00000676228.1:c.*1855G>T | ENSP00000502375.1:n.*1855G>T | |
| ENST00000255078.7:c.2532G>T | ENSP00000255078.3:p.Ala844= | |
| ENST00000539064.5:n.2291G>T | ||
| ENST00000543739.5:n.1525G>T | ||
| NM_002180.2:c.2532G>T , LRG_250t1:c.2532G>T | NP_002171.2:p.Ala844= | |
| XM_005273974.2:c.1521G>T | XP_005274031.1:p.Ala507= | |
| XM_005273975.2:c.1404G>T | XP_005274032.1:p.Ala468= | |
| XM_011544994.1:c.1299G>T | XP_011543296.1:p.Ala433= | |
| XR_949903.1:n.2634G>T | ||
| XM_005273975.3:c.1404G>T | XP_005274032.1:p.Ala468= | |
| XM_017017669.2:c.1521G>T | XP_016873158.1:p.Ala507= | |
| XM_017017670.2:c.1521G>T | XP_016873159.1:p.Ala507= | |
| XR_949903.3:n.2630G>T | ||
| NM_002180.3:c.2532G>T MANE Select | NP_002171.2:p.Ala844= |