Linked Data
ClinVar Variation Id:
2512314
ClinVar RCV Id:
RCV003251541
dbSNP Id:
rs372565928
gnomAD v2:
16-1840954-C-A
gnomAD v3:
16-1790953-C-A
gnomAD v4:
16-1790953-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1790953C>A , CM000678.2:g.1790953C>A | GRCh38 |
| NC_000016.9:g.1840954C>A , CM000678.1:g.1840954C>A | GRCh37 |
| NC_000016.8:g.1780955C>A | NCBI36 |
| NG_011778.1:g.7781G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215539.4:c.1465G>T (IGFALS) MANE Select | ENSP00000215539.3:p.Val489Phe | |
| ENST00000215539.3:c.1465G>T (IGFALS) | ENSP00000215539.3:p.Val489Phe | |
| ENST00000415638.3:c.1579G>T (IGFALS) | ENSP00000416683.3:p.Val527Phe | |
| ENST00000569769.1:c.-13+2684G>T (SPSB3) | ENSP00000455098.1:n.-13+2684G>T | |
| NM_001146006.1:c.1579G>T (IGFALS) | NP_001139478.1:p.Val527Phe | |
| NM_004970.2:c.1465G>T (IGFALS) | NP_004961.1:p.Val489Phe | |
| NR_027389.1:n.1519G>T (IGFALS) | ||
| XM_011522476.1:c.1546G>T (IGFALS) | XP_011520778.1:p.Val516Phe | |
| NM_001146006.2:c.1579G>T (IGFALS) | NP_001139478.1:p.Val527Phe | |
| NM_004970.3:c.1465G>T (IGFALS) MANE Select | NP_004961.1:p.Val489Phe |