Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227073A>T , CM000673.2:g.5227073A>T | GRCh38 |
| NC_000011.9:g.5248303A>T , CM000673.1:g.5248303A>T | GRCh37 |
| NC_000011.8:g.5204879A>T | NCBI36 |
| NG_000007.3:g.70543T>A | |
| NG_059281.1:g.4999T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.-52T>A | ENSP00000494175.1:n.-52T>A | |
| ENST00000380315.2:c.-18-34T>A | ENSP00000369671.2:n.-18-34T>A |