gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00069171 (AFR)
Genomes Max Group AF
0.00064201 (AFR)
Exomes Max Group AF
0.00060325 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55346387G>T , CM000666.2:g.55346387G>T | GRCh38 |
| NC_000004.11:g.56212554G>T , CM000666.1:g.56212554G>T | GRCh37 |
| NC_000004.10:g.55907311G>T | NCBI36 |
| NG_028230.1:g.5167G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.51G>T MANE Select | ENSP00000264228.4:p.Ala17= | |
| ENST00000679351.1:c.51G>T | ENSP00000505676.1:p.Ala17= | |
| ENST00000679707.1:c.51G>T | ENSP00000505713.1:p.Ala17= | |
| ENST00000679836.1:c.51G>T | ENSP00000506601.1:p.Ala17= | |
| ENST00000680700.1:c.51G>T | ENSP00000504926.1:p.Ala17= | |
| ENST00000264228.8:c.51G>T | ENSP00000264228.4:p.Ala17= | |
| NM_024592.4:c.51G>T | NP_078868.1:p.Ala17= | |
| XM_005265766.2:c.51G>T | XP_005265823.1:p.Ala17= | |
| XM_005265767.2:c.51G>T | XP_005265824.1:p.Ala17= | |
| XM_005265766.4:c.51G>T | XP_005265823.1:p.Ala17= | |
| XM_005265767.3:c.51G>T | XP_005265824.1:p.Ala17= | |
| NM_024592.5:c.51G>T MANE Select | NP_078868.1:p.Ala17= |