Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.21278636C= , CM000672.2:g.21278636C= | GRCh38 |
| NC_000010.10:g.21567565C= , CM000672.1:g.21567565C= | GRCh37 |
| NC_000010.9:g.21607571C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675702.1:n.182+14194G= | ||
| NM_001377326.1:c.-40+14194G= | NP_001364255.1:n.-40+14194G= | |
| NM_001377327.1:c.-206+14194G= | NP_001364256.1:n.-206+14194G= |