Linked Data
ClinVar Variation Id:
2407235
ClinVar RCV Id:
RCV004235486
dbSNP Id:
rs774812862
ExAC:
2:112989506 A / G
gnomAD v2:
2-112989506-A-G
gnomAD v3:
2-112231929-A-G
gnomAD v4:
2-112231929-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112231929A>G , CM000664.2:g.112231929A>G | GRCh38 |
| NC_000002.11:g.112989506A>G , CM000664.1:g.112989506A>G | GRCh37 |
| NC_000002.10:g.112705977A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409573.7:c.752T>C (ZC3H8) MANE Select | ENSP00000386488.1:p.Phe251Ser | |
| ENST00000272570.9:c.752T>C (ZC3H8) | ENSP00000272570.5:p.Phe251Ser | |
| ENST00000409573.6:c.752T>C (ZC3H8) | ENSP00000386488.1:p.Phe251Ser | |
| ENST00000615791.1:c.752T>C (ZC3H8) | ENSP00000483976.1:p.Phe251Ser | |
| NM_032494.2:c.752T>C (ZC3H8) | NP_115883.2:p.Phe251Ser | |
| XM_005263826.3:c.446T>C (ZC3H8) | XP_005263883.1:p.Phe149Ser | |
| XM_011511998.1:c.446T>C (ZC3H8) | XP_011510300.1:p.Phe149Ser | |
| XM_017003317.1:c.1042+1044A>G (FBLN7) | XP_016858806.1:n.1042+1044A>G | |
| XM_017005107.1:c.446T>C (ZC3H8) | XP_016860596.1:p.Phe149Ser | |
| XM_024453174.1:c.446T>C (ZC3H8) | XP_024308942.1:p.Phe149Ser | |
| XM_024453175.1:c.446T>C (ZC3H8) | XP_024308943.1:p.Phe149Ser | |
| XR_001738613.1:n.1313+1044A>G (FBLN7) | ||
| XR_001738614.2:n.1313+1044A>G (FBLN7) | ||
| XR_001738615.1:n.1313+1044A>G (FBLN7) | ||
| XR_001738616.1:n.1313+1044A>G (FBLN7) | ||
| XR_001738617.1:n.1313+1044A>G (FBLN7) | ||
| XR_001738618.2:n.2475A>G (FBLN7) | ||
| XR_001738994.1:n.813T>C (ZC3H8) | ||
| XR_001738995.2:n.811T>C (ZC3H8) | ||
| NM_032494.3:c.752T>C (ZC3H8) MANE Select | NP_115883.2:p.Phe251Ser |