Linked Data
ClinVar Variation Id:
14789
dbSNP Id:
rs121912430
gnomAD v2:
12-102813415-C-T
gnomAD v4:
12-102419637-C-T
PubMed:
PMID:15769976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102419637C>T , CM000674.2:g.102419637C>T | GRCh38 |
| NC_000012.11:g.102813415C>T , CM000674.1:g.102813415C>T | GRCh37 |
| NC_000012.10:g.101337545C>T | NCBI36 |
| NG_011713.1:g.65964G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337514.11:c.274G>A (IGF1) MANE Select | ENSP00000337612.7:p.Val92Met | |
| ENST00000392905.7:c.274G>A (IGF1) | ENSP00000376638.3:p.Val92Met | |
| ENST00000644491.1:c.274G>A (IGF1) | ENSP00000494228.1:p.Val92Met | |
| ENST00000307046.8:c.274G>A (IGF1) | ENSP00000302665.8:p.Val92Met | |
| ENST00000337514.10:c.274G>A (IGF1) | ENSP00000337612.6:p.Val92Met | |
| ENST00000392904.5:c.274G>A (IGF1) | ENSP00000376637.1:p.Val92Met | |
| ENST00000392905.6:c.217G>A (IGF1) | ENSP00000376638.2:p.Val73Met | |
| ENST00000424202.6:c.226G>A (IGF1) | ENSP00000416811.2:p.Val76Met | |
| ENST00000456098.5:c.274G>A (IGF1) | ENSP00000394999.1:p.Val92Met | |
| NM_000618.3:c.274G>A (IGF1) | NP_000609.1:p.Val92Met | |
| NM_000618.4:c.274G>A (IGF1) | NP_000609.1:p.Val92Met | |
| NM_001111283.1:c.274G>A (IGF1) | NP_001104753.1:p.Val92Met | |
| NM_001111283.2:c.274G>A (IGF1) | NP_001104753.1:p.Val92Met | |
| NM_001111284.1:c.226G>A (IGF1) | NP_001104754.1:p.Val76Met | |
| NM_001111285.1:c.274G>A (IGF1) | NP_001104755.1:p.Val92Met | |
| XR_944534.1:n.533G>A (IGF1) | ||
| XR_944535.1:n.310G>A (IGF1) | ||
| XR_944536.1:n.295G>A (IGF1) | ||
| XR_945270.1:n.6576-3434C>T (LINC02456) | ||
| XR_945271.1:n.5629-3434C>T (LINC02456) | ||
| XR_945272.1:n.6576-3434C>T (LINC02456) | ||
| XR_945273.1:n.6526-3434C>T (LINC02456) | ||
| XR_945274.1:n.6252-3434C>T (LINC02456) | ||
| XR_945275.1:n.6132-3434C>T (LINC02456) | ||
| XR_945276.1:n.6104-3434C>T (LINC02456) | ||
| XR_945277.1:n.2200-3434C>T (LINC02456) | ||
| NM_001111285.2:c.274G>A (IGF1) | NP_001104755.1:p.Val92Met | |
| XM_017019259.1:c.325G>A (IGF1) | XP_016874748.1:p.Val109Met | |
| XM_017019261.1:c.226G>A (IGF1) | XP_016874750.1:p.Val76Met | |
| XM_017019262.2:c.325G>A (IGF1) | XP_016874751.1:p.Val109Met | |
| XM_017019263.2:c.325G>A (IGF1) | XP_016874752.1:p.Val109Met | |
| XR_001749285.1:n.3025-3434C>T (LINC02456) | ||
| NM_000618.5:c.274G>A (IGF1) MANE Select | NP_000609.1:p.Val92Met | |
| NM_001111283.3:c.274G>A (IGF1) | NP_001104753.1:p.Val92Met | |
| NM_001111284.2:c.226G>A (IGF1) | NP_001104754.1:p.Val76Met | |
| NM_001111285.3:c.274G>A (IGF1) | NP_001104755.1:p.Val92Met |