Linked Data
ClinVar Variation Id:
8128
ClinVar RCV Id:
RCV000008601
dbSNP Id:
rs121909247
gnomAD v2:
16-1840801-A-G
gnomAD v3:
16-1790800-A-G
gnomAD v4:
16-1790800-A-G
PubMed:
PMID:17726072
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1790800A>G , CM000678.2:g.1790800A>G | GRCh38 |
| NC_000016.9:g.1840801A>G , CM000678.1:g.1840801A>G | GRCh37 |
| NC_000016.8:g.1780802A>G | NCBI36 |
| NG_011778.1:g.7934T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000215539.4:c.1618T>C (IGFALS) MANE Select | ENSP00000215539.3:p.Cys540Arg | |
| ENST00000215539.3:c.1618T>C (IGFALS) | ENSP00000215539.3:p.Cys540Arg | |
| ENST00000415638.3:c.1732T>C (IGFALS) | ENSP00000416683.3:p.Cys578Arg | |
| ENST00000569769.1:c.-13+2837T>C (SPSB3) | ENSP00000455098.1:n.-13+2837T>C | |
| NM_001146006.1:c.1732T>C (IGFALS) | NP_001139478.1:p.Cys578Arg | |
| NM_004970.2:c.1618T>C (IGFALS) | NP_004961.1:p.Cys540Arg | |
| NR_027389.1:n.1672T>C (IGFALS) | ||
| XM_011522476.1:c.1699T>C (IGFALS) | XP_011520778.1:p.Cys567Arg | |
| NM_001146006.2:c.1732T>C (IGFALS) | NP_001139478.1:p.Cys578Arg | |
| NM_004970.3:c.1618T>C (IGFALS) MANE Select | NP_004961.1:p.Cys540Arg |