Linked Data
ClinVar Variation Id:
318263
ClinVar RCV Id:
RCV000407086
dbSNP Id:
rs776965925
ExAC:
16:1842173 G / A
gnomAD v2:
16-1842173-G-A
gnomAD v3:
16-1792172-G-A
gnomAD v4:
16-1792172-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1792172G>A , CM000678.2:g.1792172G>A | GRCh38 |
| NC_000016.9:g.1842173G>A , CM000678.1:g.1842173G>A | GRCh37 |
| NC_000016.8:g.1782174G>A | NCBI36 |
| NG_011778.1:g.6562C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215539.4:c.246C>T (IGFALS) MANE Select | ENSP00000215539.3:p.Asp82= | |
| ENST00000215539.3:c.246C>T (IGFALS) | ENSP00000215539.3:p.Asp82= | |
| ENST00000415638.3:c.360C>T (IGFALS) | ENSP00000416683.3:p.Asp120= | |
| ENST00000568221.1:c.278C>T (IGFALS) | ENSP00000456923.1:p.Thr93Met | |
| ENST00000569769.1:c.-13+1465C>T (SPSB3) | ENSP00000455098.1:n.-13+1465C>T | |
| NM_001146006.1:c.360C>T (IGFALS) | NP_001139478.1:p.Asp120= | |
| NM_004970.2:c.246C>T (IGFALS) | NP_004961.1:p.Asp82= | |
| NR_027389.1:n.300C>T (IGFALS) | ||
| XM_011522476.1:c.327C>T (IGFALS) | XP_011520778.1:p.Asp109= | |
| NM_001146006.2:c.360C>T (IGFALS) | NP_001139478.1:p.Asp120= | |
| NM_004970.3:c.246C>T (IGFALS) MANE Select | NP_004961.1:p.Asp82= |