Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227141A>T , CM000673.2:g.5227141A>T | GRCh38 |
| NC_000011.9:g.5248371A>T , CM000673.1:g.5248371A>T | GRCh37 |
| NC_000011.8:g.5204947A>T | NCBI36 |
| NG_000007.3:g.70475T>A | |
| NG_059281.1:g.4931T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.-120T>A | ENSP00000494175.1:n.-120T>A | |
| ENST00000380315.2:c.-18-102T>A | ENSP00000369671.2:n.-18-102T>A |