Linked Data
ClinVar Variation Id:
2525997
ClinVar RCV Id:
RCV004304678
dbSNP Id:
rs111575208
gnomAD v2:
2-112991746-C-T
gnomAD v3:
2-112234169-C-T
gnomAD v4:
2-112234169-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112234169C>T , CM000664.2:g.112234169C>T | GRCh38 |
| NC_000002.11:g.112991746C>T , CM000664.1:g.112991746C>T | GRCh37 |
| NC_000002.10:g.112708217C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409573.7:c.572G>A (ZC3H8) MANE Select | ENSP00000386488.1:p.Arg191His | |
| ENST00000272570.9:c.572G>A (ZC3H8) | ENSP00000272570.5:p.Arg191His | |
| ENST00000409573.6:c.572G>A (ZC3H8) | ENSP00000386488.1:p.Arg191His | |
| ENST00000466259.1:n.479G>A (ZC3H8) | ||
| ENST00000474234.5:n.752G>A (ZC3H8) | ||
| ENST00000615791.1:c.572G>A (ZC3H8) | ENSP00000483976.1:p.Arg191His | |
| NM_032494.2:c.572G>A (ZC3H8) | NP_115883.2:p.Arg191His | |
| XM_005263826.3:c.266G>A (ZC3H8) | XP_005263883.1:p.Arg89His | |
| XM_011511998.1:c.266G>A (ZC3H8) | XP_011510300.1:p.Arg89His | |
| XM_017003317.1:c.1042+3284C>T (FBLN7) | XP_016858806.1:n.1042+3284C>T | |
| XM_017005107.1:c.266G>A (ZC3H8) | XP_016860596.1:p.Arg89His | |
| XM_024453174.1:c.266G>A (ZC3H8) | XP_024308942.1:p.Arg89His | |
| XM_024453175.1:c.266G>A (ZC3H8) | XP_024308943.1:p.Arg89His | |
| XR_001738613.1:n.1313+3284C>T (FBLN7) | ||
| XR_001738614.2:n.1313+3284C>T (FBLN7) | ||
| XR_001738615.1:n.1313+3284C>T (FBLN7) | ||
| XR_001738616.1:n.1313+3284C>T (FBLN7) | ||
| XR_001738617.1:n.1313+3284C>T (FBLN7) | ||
| XR_001738994.1:n.633G>A (ZC3H8) | ||
| XR_001738995.2:n.631G>A (ZC3H8) | ||
| NM_032494.3:c.572G>A (ZC3H8) MANE Select | NP_115883.2:p.Arg191His |