Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.77335605C= , CM000674.2:g.77335605C= | GRCh38 |
| NC_000012.11:g.77729385C= , CM000674.1:g.77729385C= | GRCh37 |
| NC_000012.10:g.76253516C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000550042.2:c.-337+10391C= | ENSP00000489639.1:n.-337+10391C= |
| XR_945127.1:n.217-5123G= |