Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.116461747G>T , CM000665.2:g.116461747G>T | GRCh38 |
| NC_000003.11:g.116180594G>T , CM000665.1:g.116180594G>T | GRCh37 |
| NC_000003.10:g.117663284G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474851.1:c.179-16792C>A | ENSP00000418506.1:n.179-16792C>A |