Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97059329C>T , CM000671.2:g.97059329C>T | GRCh38 |
| NC_000009.11:g.99821611C>T , CM000671.1:g.99821611C>T | GRCh37 |
| NC_000009.10:g.98861432C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000679551.1:n.269+537G>A | |
| ENST00000681517.1:n.420+537G>A |