Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127800257A>C , CM000671.2:g.127800257A>C | GRCh38 |
| NC_000009.11:g.130562536A>C , CM000671.1:g.130562536A>C | GRCh37 |
| NC_000009.10:g.129602357A>C | NCBI36 |
| NG_023245.1:g.2383A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479147.6:n.217-4028A>C | ||
| ENST00000479375.6:n.132-4028A>C |