gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70444823 (NFE)
Genomes Max Group AF
0.69433034 (NFE)
Exomes Max Group AF
0.7047838 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113412755A>G , CM000673.2:g.113412755A>G | GRCh38 |
| NC_000011.9:g.113283477A>G , CM000673.1:g.113283477A>G | GRCh37 |
| NC_000011.8:g.112788687A>G | NCBI36 |
| NG_008841.1:g.67525T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.939T>C MANE Select | ENSP00000354859.3:p.His313= | |
| ENST00000346454.7:c.852T>C | ENSP00000278597.5:p.His284= | |
| ENST00000362072.7:c.939T>C | ENSP00000354859.3:p.His313= | |
| ENST00000538967.5:c.945T>C | ENSP00000438215.1:p.His315= | |
| ENST00000542968.5:c.939T>C | ENSP00000442172.1:p.His313= | |
| ENST00000544518.5:c.936T>C | ENSP00000441068.1:p.His312= | |
| NM_000795.3:c.939T>C | NP_000786.1:p.His313= | |
| NM_016574.3:c.852T>C | NP_057658.2:p.His284= | |
| XM_017017296.2:c.939T>C | XP_016872785.1:p.His313= | |
| NM_000795.4:c.939T>C MANE Select | NP_000786.1:p.His313= | |
| NM_016574.4:c.852T>C | NP_057658.2:p.His284= |