Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993340A>G , CM000665.2:g.36993340A>G | GRCh38 |
| NC_000003.11:g.37034831A>G , CM000665.1:g.37034831A>G | GRCh37 |
| NC_000003.10:g.37009835A>G | NCBI36 |
| NG_007109.2:g.4991A>G , LRG_216:g.4991A>G | |
| NG_008418.1:g.4965T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-208A>G | ENSP00000500979.2:n.-208A>G | |
| ENST00000231790.6:c.-208A>G | ENSP00000231790.2:n.-208A>G |