Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.59705590A>T , CM000665.2:g.59705590A>T | GRCh38 |
| NC_000003.11:g.59691316A>T , CM000665.1:g.59691316A>T | GRCh37 |
| NC_000003.10:g.59666356A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002959675.1:n.1218-104142A>T |