gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00113966 (AFR)
Genomes Max Group AF
0.00067664 (AFR)
Exomes Max Group AF
0.00147695 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153870854G>A , CM000685.2:g.153870854G>A | GRCh38 |
| NC_000023.10:g.153136309G>A , CM000685.1:g.153136309G>A | GRCh37 |
| NC_000023.9:g.152789503G>A | NCBI36 |
| NG_009645.3:g.43370C>T | |
| NG_009645.4:g.20320C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370060.7:c.630C>T MANE Select | ENSP00000359077.1:p.His210= | |
| ENST00000361699.8:c.630C>T | ENSP00000355380.4:p.His210= | |
| ENST00000361981.7:c.615C>T | ENSP00000354712.3:p.His205= | |
| ENST00000370055.5:c.615C>T | ENSP00000359072.1:p.His205= | |
| ENST00000370060.5:c.630C>T | ENSP00000359077.1:p.His210= | |
| NM_000425.4:c.630C>T | NP_000416.1:p.His210= | |
| NM_001143963.2:c.615C>T | NP_001137435.1:p.His205= | |
| NM_001278116.1:c.630C>T | NP_001265045.1:p.His210= | |
| NM_024003.3:c.630C>T | NP_076493.1:p.His210= | |
| NM_000425.5:c.630C>T | NP_000416.1:p.His210= | |
| NM_001278116.2:c.630C>T MANE Select | NP_001265045.1:p.His210= |