Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107194115G>A , CM000666.2:g.107194115G>A | GRCh38 |
| NC_000004.11:g.108115272G>A , CM000666.1:g.108115272G>A | GRCh37 |
| NC_000004.10:g.108334721G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000510463.1:c.-83-5590C>T | ENSP00000423797.1:n.-83-5590C>T | |
| ENST00000513208.5:c.-177-5590C>T | ENSP00000421255.1:n.-177-5590C>T |