Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92419160G= , CM000672.2:g.92419160G= | GRCh38 |
| NC_000010.10:g.94178917G= , CM000672.1:g.94178917G= | GRCh37 |
| NC_000010.9:g.94168897G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430958.1:n.494G= | ||
| NR_038243.2:n.500G= |