Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.65051794A>T , CM000667.2:g.65051794A>T | GRCh38 |
| NC_000005.9:g.64347621A>T , CM000667.1:g.64347621A>T | GRCh37 |
| NC_000005.8:g.64383377A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000693303.1:c.1153-47458A>T | ENSP00000508557.1:n.1153-47458A>T |