Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35380679A= , CM000684.2:g.35380679A= | GRCh38 |
| NC_000022.10:g.35776672A= , CM000684.1:g.35776672A= | GRCh37 |
| NC_000022.9:g.34106672A= | NCBI36 |
| NG_023030.1:g.4613A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000412893.5:c.-241+199A= | ENSP00000413316.1:n.-241+199A= |