Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.371300T>A , CM000682.2:g.371300T>A | GRCh38 |
| NC_000020.10:g.351944T>A , CM000682.1:g.351944T>A | GRCh37 |
| NC_000020.9:g.299944T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000615226.4:c.-407-4145T>A | ENSP00000478194.1:n.-407-4145T>A |