Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.15120441G>T , CM000671.2:g.15120441G>T | GRCh38 |
| NC_000009.11:g.15120439G>T , CM000671.1:g.15120439G>T | GRCh37 |
| NC_000009.10:g.15110439G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609203.1:n.549+5289C>A |