gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26143275 (EAS)
Genomes Max Group AF
0.26143275 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102405820A>G , CM000674.2:g.102405820A>G | GRCh38 |
| NC_000012.11:g.102799598A>G , CM000674.1:g.102799598A>G | GRCh37 |
| NC_000012.10:g.101323728A>G | NCBI36 |
| NG_011713.1:g.79781T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337514.11:c.403-3254T>C (IGF1) MANE Select | ENSP00000337612.7:n.403-3254T>C | |
| ENST00000392905.7:c.452-3254T>C (IGF1) | ENSP00000376638.3:n.452-3254T>C | |
| ENST00000644491.1:c.403-3254T>C (IGF1) | ENSP00000494228.1:n.403-3254T>C | |
| ENST00000337514.10:c.403-3254T>C (IGF1) | ENSP00000337612.6:n.403-3254T>C | |
| ENST00000392904.5:c.452-3254T>C (IGF1) | ENSP00000376637.1:n.452-3254T>C | |
| ENST00000392905.6:c.395-3254T>C (IGF1) | ENSP00000376638.2:n.395-3254T>C | |
| ENST00000424202.6:c.355-3254T>C (IGF1) | ENSP00000416811.2:n.355-3254T>C | |
| ENST00000456098.5:c.452-3254T>C (IGF1) | ENSP00000394999.1:n.452-3254T>C | |
| ENST00000481539.1:n.44-3254T>C (IGF1) | ||
| NM_000618.3:c.403-3254T>C (IGF1) | NP_000609.1:n.403-3254T>C | |
| NM_000618.4:c.403-3254T>C (IGF1) | NP_000609.1:n.403-3254T>C | |
| NM_001111283.1:c.452-3254T>C (IGF1) | NP_001104753.1:n.452-3254T>C | |
| NM_001111283.2:c.452-3254T>C (IGF1) | NP_001104753.1:n.452-3254T>C | |
| NM_001111284.1:c.355-3254T>C (IGF1) | NP_001104754.1:n.355-3254T>C | |
| XR_944534.1:n.2962-3254T>C (IGF1) | ||
| XR_944535.1:n.2739-3254T>C (IGF1) | ||
| XR_944536.1:n.2724-3254T>C (IGF1) | ||
| XR_945270.1:n.700+1589A>G (LINC02456) | ||
| XR_945271.1:n.700+1589A>G (LINC02456) | ||
| XR_945272.1:n.700+1589A>G (LINC02456) | ||
| XR_945273.1:n.650+1589A>G (LINC02456) | ||
| XR_945274.1:n.376+1589A>G (LINC02456) | ||
| XR_945275.1:n.256+1589A>G (LINC02456) | ||
| XR_945276.1:n.228+1589A>G (LINC02456) | ||
| XR_945277.1:n.700+1589A>G (LINC02456) | ||
| XM_017019262.2:c.503-3254T>C (IGF1) | XP_016874751.1:n.503-3254T>C | |
| XM_017019263.2:c.454-3254T>C (IGF1) | XP_016874752.1:n.454-3254T>C | |
| XR_001749285.1:n.815+1589A>G (LINC02456) | ||
| XR_001749286.1:n.376+1589A>G (LINC02456) | ||
| XR_001749287.1:n.694+1589A>G (LINC02456) | ||
| XR_001749288.1:n.1703+1589A>G (LINC02456) | ||
| NM_000618.5:c.403-3254T>C (IGF1) MANE Select | NP_000609.1:n.403-3254T>C | |
| NM_001111283.3:c.452-3254T>C (IGF1) | NP_001104753.1:n.452-3254T>C | |
| NM_001111284.2:c.355-3254T>C (IGF1) | NP_001104754.1:n.355-3254T>C |