Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.28391927C>T , CM000664.2:g.28391927C>T | GRCh38 |
| NC_000002.11:g.28614794C>T , CM000664.1:g.28614794C>T | GRCh37 |
| NC_000002.10:g.28468298C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_103831.1:n.125+2621G>A |