Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53958334C= , CM000676.2:g.53958334C= | GRCh38 |
| NC_000014.8:g.54425052C= , CM000676.1:g.54425052C= | GRCh37 |
| NC_000014.7:g.53494802C= | NCBI36 |
| NG_009215.1:g.3503G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559642.1:c.-133+386G= | ENSP00000453467.1:n.-133+386G= |