Linked Data
ClinVar Variation Id:
2383496
ClinVar RCV Id:
RCV002689504
dbSNP Id:
rs1053975229
gnomAD v2:
16-1841004-T-G
gnomAD v3:
16-1791003-T-G
gnomAD v4:
16-1791003-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1791003T>G , CM000678.2:g.1791003T>G | GRCh38 |
| NC_000016.9:g.1841004T>G , CM000678.1:g.1841004T>G | GRCh37 |
| NC_000016.8:g.1781005T>G | NCBI36 |
| NG_011778.1:g.7731A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215539.4:c.1415A>C (IGFALS) MANE Select | ENSP00000215539.3:p.Glu472Ala | |
| ENST00000215539.3:c.1415A>C (IGFALS) | ENSP00000215539.3:p.Glu472Ala | |
| ENST00000415638.3:c.1529A>C (IGFALS) | ENSP00000416683.3:p.Glu510Ala | |
| ENST00000569769.1:c.-13+2634A>C (SPSB3) | ENSP00000455098.1:n.-13+2634A>C | |
| NM_001146006.1:c.1529A>C (IGFALS) | NP_001139478.1:p.Glu510Ala | |
| NM_004970.2:c.1415A>C (IGFALS) | NP_004961.1:p.Glu472Ala | |
| NR_027389.1:n.1469A>C (IGFALS) | ||
| XM_011522476.1:c.1496A>C (IGFALS) | XP_011520778.1:p.Glu499Ala | |
| NM_001146006.2:c.1529A>C (IGFALS) | NP_001139478.1:p.Glu510Ala | |
| NM_004970.3:c.1415A>C (IGFALS) MANE Select | NP_004961.1:p.Glu472Ala |