ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42081068G>A , CM000677.2:g.42081068G>A | GRCh38 |
| NC_000015.9:g.42373266G>A , CM000677.1:g.42373266G>A | GRCh37 |
| NC_000015.8:g.40160558G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290472.4:c.1023C>T MANE Select | ENSP00000290472.3:p.His341= | |
| ENST00000290472.3:c.1023C>T | ENSP00000290472.3:p.His341= | |
| NM_178034.3:c.1023C>T | NP_828848.3:p.His341= | |
| XM_011521467.1:c.855C>T | XP_011519769.1:p.His285= | |
| XR_931798.1:n.1123C>T | ||
| XM_011521467.2:c.855C>T | XP_011519769.1:p.His285= | |
| XR_931798.2:n.1123C>T | ||
| NM_178034.4:c.1023C>T MANE Select | NP_828848.3:p.His341= |