Linked Data
ClinVar Variation Id:
318236
ClinVar RCV Id:
RCV000331677
dbSNP Id:
rs2230053
ExAC:
16:1840853 C / T
gnomAD v2:
16-1840853-C-T
gnomAD v3:
16-1790852-C-T
gnomAD v4:
16-1790852-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1790852C>T , CM000678.2:g.1790852C>T | GRCh38 |
| NC_000016.9:g.1840853C>T , CM000678.1:g.1840853C>T | GRCh37 |
| NC_000016.8:g.1780854C>T | NCBI36 |
| NG_011778.1:g.7882G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215539.4:c.1566G>A (IGFALS) MANE Select | ENSP00000215539.3:p.Thr522= | |
| ENST00000215539.3:c.1566G>A (IGFALS) | ENSP00000215539.3:p.Thr522= | |
| ENST00000415638.3:c.1680G>A (IGFALS) | ENSP00000416683.3:p.Thr560= | |
| ENST00000569769.1:c.-13+2785G>A (SPSB3) | ENSP00000455098.1:n.-13+2785G>A | |
| NM_001146006.1:c.1680G>A (IGFALS) | NP_001139478.1:p.Thr560= | |
| NM_004970.2:c.1566G>A (IGFALS) | NP_004961.1:p.Thr522= | |
| NR_027389.1:n.1620G>A (IGFALS) | ||
| XM_011522476.1:c.1647G>A (IGFALS) | XP_011520778.1:p.Thr549= | |
| NM_001146006.2:c.1680G>A (IGFALS) | NP_001139478.1:p.Thr560= | |
| NM_004970.3:c.1566G>A (IGFALS) MANE Select | NP_004961.1:p.Thr522= |