ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0080481 (AFR)
Genomes Max Group AF
0.00742145 (AFR)
Exomes Max Group AF
0.00832688 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63972688G>A , CM000679.2:g.63972688G>A | GRCh38 |
| NC_000017.10:g.62050048G>A , CM000679.1:g.62050048G>A | GRCh37 |
| NC_000017.9:g.59403780G>A | NCBI36 |
| NG_011699.1:g.5231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.154C>T MANE Select | ENSP00000396320.1:p.Arg52Trp | |
| ENST00000578147.5:c.154C>T | ENSP00000463963.1:p.Arg52Trp | |
| NM_000334.4:c.154C>T MANE Select | NP_000325.4:p.Arg52Trp | |
| XM_005257566.3:c.154C>T | XP_005257623.1:p.Arg52Trp |