Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4951292C= , CM000678.2:g.4951292C= | GRCh38 |
| NC_000016.9:g.5001293C= , CM000678.1:g.5001293C= | GRCh37 |
| NC_000016.8:g.4941294C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592772.1:c.-92+9272G= | ENSP00000467699.1:n.-92+9272G= |