Linked Data
ClinVar Variation Id:
318245
ClinVar RCV Id:
RCV000358639
dbSNP Id:
rs200778437
ExAC:
16:1841354 C / T
gnomAD v2:
16-1841354-C-T
gnomAD v3:
16-1791353-C-T
gnomAD v4:
16-1791353-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1791353C>T , CM000678.2:g.1791353C>T | GRCh38 |
| NC_000016.9:g.1841354C>T , CM000678.1:g.1841354C>T | GRCh37 |
| NC_000016.8:g.1781355C>T | NCBI36 |
| NG_011778.1:g.7381G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215539.4:c.1065G>A (IGFALS) MANE Select | ENSP00000215539.3:p.Ala355= | |
| ENST00000215539.3:c.1065G>A (IGFALS) | ENSP00000215539.3:p.Ala355= | |
| ENST00000415638.3:c.1179G>A (IGFALS) | ENSP00000416683.3:p.Ala393= | |
| ENST00000569769.1:c.-13+2284G>A (SPSB3) | ENSP00000455098.1:n.-13+2284G>A | |
| NM_001146006.1:c.1179G>A (IGFALS) | NP_001139478.1:p.Ala393= | |
| NM_004970.2:c.1065G>A (IGFALS) | NP_004961.1:p.Ala355= | |
| NR_027389.1:n.1119G>A (IGFALS) | ||
| XM_011522476.1:c.1146G>A (IGFALS) | XP_011520778.1:p.Ala382= | |
| NM_001146006.2:c.1179G>A (IGFALS) | NP_001139478.1:p.Ala393= | |
| NM_004970.3:c.1065G>A (IGFALS) MANE Select | NP_004961.1:p.Ala355= |