Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.116462181G>A , CM000665.2:g.116462181G>A | GRCh38 |
| NC_000003.11:g.116181028G>A , CM000665.1:g.116181028G>A | GRCh37 |
| NC_000003.10:g.117663718G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474851.1:c.179-17226C>T | ENSP00000418506.1:n.179-17226C>T |