gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09598969 (SAS)
Genomes Max Group AF
0.11263489 (EAS)
Exomes Max Group AF
0.09577531 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13866194C>T , CM000674.2:g.13866194C>T | GRCh38 |
| NC_000012.11:g.14019128C>T , CM000674.1:g.14019128C>T | GRCh37 |
| NC_000012.10:g.13910395C>T | NCBI36 |
| NG_031854.1:g.118895G>A | |
| NG_031854.2:g.120819G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.15G>A MANE Select | ENSP00000477455.1:p.Ala5= | |
| ENST00000630791.2:c.15G>A | ENSP00000486677.2:p.Ala5= | |
| ENST00000609686.3:c.15G>A | ENSP00000477455.1:p.Ala5= | |
| ENST00000627535.2:c.15G>A | ENSP00000486411.1:p.Ala5= | |
| ENST00000630791.1:c.15G>A | ENSP00000486677.1:p.Ala5= | |
| NM_000834.3:c.15G>A | NP_000825.2:p.Ala5= | |
| XM_011520628.1:c.15G>A | XP_011518930.1:p.Ala5= | |
| XM_011520629.1:c.15G>A | XP_011518931.1:p.Ala5= | |
| XM_011520630.1:c.15G>A | XP_011518932.1:p.Ala5= | |
| NM_000834.4:c.15G>A | NP_000825.2:p.Ala5= | |
| XM_011520628.2:c.15G>A | XP_011518930.1:p.Ala5= | |
| XM_011520629.2:c.15G>A | XP_011518931.1:p.Ala5= | |
| XM_017019219.2:c.15G>A | XP_016874708.1:p.Ala5= | |
| NM_000834.5:c.15G>A MANE Select | NP_000825.2:p.Ala5= |