dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208255534G>C , CM000664.2:g.208255534G>C | GRCh38 |
| NC_000002.11:g.209120258G>C , CM000664.1:g.209120258G>C | GRCh37 |
| NC_000002.10:g.208828503G>C | NCBI36 |
| NG_023319.2:g.15541C>G , LRG_610:g.15541C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417583.5:c.-217C>G (IDH1) | ENSP00000409045.1:n.-217C>G | |
| ENST00000451391.5:c.-217C>G (IDH1) | ENSP00000396787.1:n.-217C>G | |
| NR_046452.1:n.199+103G>C (IDH1-AS1) |