Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227142G>A , CM000673.2:g.5227142G>A | GRCh38 |
| NC_000011.9:g.5248372G>A , CM000673.1:g.5248372G>A | GRCh37 |
| NC_000011.8:g.5204948G>A | NCBI36 |
| NG_000007.3:g.70474C>T | |
| NG_059281.1:g.4930C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000380315.2:c.-18-103C>T | ENSP00000369671.2:n.-18-103C>T |
| ENST00000647020.1:c.-121C>T | ENSP00000494175.1:n.-121C>T |