Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.103962075T>C , CM000664.2:g.103962075T>C | GRCh38 |
| NC_000002.11:g.104578533T>C , CM000664.1:g.104578533T>C | GRCh37 |
| NC_000002.10:g.103944965T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001739621.1:n.178+87630T>C | |
| XR_001739623.1:n.178+87630T>C |