Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188795843T>C , CM000664.2:g.188795843T>C | GRCh38 |
| NC_000002.11:g.189660570T>C , CM000664.1:g.189660570T>C | GRCh37 |
| NC_000002.10:g.189368815T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011510545.1:c.-91-5919A>G | XP_011508847.1:n.-91-5919A>G |