Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62856008A>G , CM000673.2:g.62856008A>G | GRCh38 |
| NC_000011.9:g.62623480A>G , CM000673.1:g.62623480A>G | GRCh37 |
| NC_000011.8:g.62380056A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680002.1:c.-262A>G | ENSP00000506366.1:n.-262A>G | |
| ENST00000680729.1:c.-262A>G | ENSP00000505639.1:n.-262A>G |