Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107194003C= , CM000666.2:g.107194003C= | GRCh38 |
| NC_000004.11:g.108115160C= , CM000666.1:g.108115160C= | GRCh37 |
| NC_000004.10:g.108334609C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000510463.1:c.-83-5478G= | ENSP00000423797.1:n.-83-5478G= | |
| ENST00000513208.5:c.-177-5478G= | ENSP00000421255.1:n.-177-5478G= |