Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107194084A>T , CM000666.2:g.107194084A>T | GRCh38 |
| NC_000004.11:g.108115241A>T , CM000666.1:g.108115241A>T | GRCh37 |
| NC_000004.10:g.108334690A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510463.1:c.-83-5559T>A | ENSP00000423797.1:n.-83-5559T>A | |
| ENST00000513208.5:c.-177-5559T>A | ENSP00000421255.1:n.-177-5559T>A |