Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.75235719T>A , CM000670.2:g.75235719T>A | GRCh38 |
| NC_000008.10:g.76147954T>A , CM000670.1:g.76147954T>A | GRCh37 |
| NC_000008.9:g.76310509T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_103848.1:n.230-11361A>T | |
| NR_103849.2:n.178-11361A>T | |
| NR_103850.2:n.126-11361A>T |