Linked Data
ClinVar Variation Id:
369106
ClinVar RCV Id:
RCV000400837
dbSNP Id:
rs777217358
ExAC:
15:99192760 T / C
gnomAD v2:
15-99192760-T-C
gnomAD v3:
15-98649531-T-C
gnomAD v4:
15-98649531-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98649531T>C , CM000677.2:g.98649531T>C | GRCh38 |
| NC_000015.9:g.99192760T>C , CM000677.1:g.99192760T>C | GRCh37 |
| NC_000015.8:g.97010283T>C | NCBI36 |
| NG_009492.1:g.5000T>C | |
| NG_045221.1:g.6691A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.-51T>C (IGF1R) | ENSP00000496919.1:n.-51T>C | |
| ENST00000650285.1:c.-51T>C (IGF1R) MANE Select | ENSP00000497069.1:n.-51T>C | |
| ENST00000268035.10:c.-51T>C (IGF1R) | ENSP00000268035.6:n.-51T>C | |
| ENST00000558762.5:c.-51T>C (IGF1R) | ENSP00000453007.1:n.-51T>C | |
| NM_000875.4:c.-51T>C (IGF1R) | NP_000866.1:n.-51T>C | |
| NM_001291858.1:c.-51T>C (IGF1R) | NP_001278787.1:n.-51T>C | |
| NR_126453.1:n.1691A>G (IRAIN) | ||
| XM_011521513.1:c.-51T>C (IGF1R) | XP_011519815.1:n.-51T>C | |
| XM_011521514.1:c.-51T>C (IGF1R) | XP_011519816.1:n.-51T>C | |
| XM_011521515.1:c.-51T>C (IGF1R) | XP_011519817.1:n.-51T>C | |
| NM_000875.5:c.-51T>C (IGF1R) MANE Select | NP_000866.1:n.-51T>C | |
| NM_001291858.2:c.-51T>C (IGF1R) | NP_001278787.1:n.-51T>C | |
| NR_126453.2:n.1257A>G (IRAIN) |