gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79066252 (EAS)
Genomes Max Group AF
0.78673789 (EAS)
Exomes Max Group AF
0.78898373 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103515258A>G , CM000669.2:g.103515258A>G | GRCh38 |
| NC_000007.13:g.103155705A>G , CM000669.1:g.103155705A>G | GRCh37 |
| NC_000007.12:g.102942941A>G | NCBI36 |
| NG_011877.1:g.479259T>C | |
| NG_011877.2:g.479259T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.8046T>C | ENSP00000388446.3:p.His2682= | |
| ENST00000428762.6:c.8046T>C MANE Select | ENSP00000392423.1:p.His2682= | |
| ENST00000679867.1:n.7930T>C | ||
| ENST00000680248.1:n.1598T>C | ||
| ENST00000681034.1:c.8046T>C | ENSP00000506075.1:p.His2682= | |
| ENST00000681364.1:n.1295T>C | ||
| ENST00000343529.9:c.8046T>C | ENSP00000345694.5:p.His2682= | |
| ENST00000424685.2:c.8046T>C | ENSP00000388446.2:p.His2682= | |
| ENST00000428762.5:c.8046T>C | ENSP00000392423.1:p.His2682= | |
| NM_005045.3:c.8046T>C | NP_005036.2:p.His2682= | |
| NM_173054.2:c.8046T>C | NP_774959.1:p.His2682= | |
| NM_005045.4:c.8046T>C MANE Select | NP_005036.2:p.His2682= | |
| NM_173054.3:c.8046T>C | NP_774959.1:p.His2682= |