Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107194065G>A , CM000666.2:g.107194065G>A | GRCh38 |
| NC_000004.11:g.108115222G>A , CM000666.1:g.108115222G>A | GRCh37 |
| NC_000004.10:g.108334671G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000510463.1:c.-83-5540C>T | ENSP00000423797.1:n.-83-5540C>T |
| ENST00000513208.5:c.-177-5540C>T | ENSP00000421255.1:n.-177-5540C>T |