Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127800446C= , CM000671.2:g.127800446C= | GRCh38 |
| NC_000009.11:g.130562725C= , CM000671.1:g.130562725C= | GRCh37 |
| NC_000009.10:g.129602546C= | NCBI36 |
| NG_023245.1:g.2572C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000479147.6:n.217-3839C= | |
| ENST00000479375.6:n.132-3839C= |