Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227157G>T , CM000673.2:g.5227157G>T | GRCh38 |
| NC_000011.9:g.5248387G>T , CM000673.1:g.5248387G>T | GRCh37 |
| NC_000011.8:g.5204963G>T | NCBI36 |
| NG_000007.3:g.70459C>A | |
| NG_059281.1:g.4915C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.-136C>A | ENSP00000494175.1:n.-136C>A | |
| ENST00000380315.2:c.-18-118C>A | ENSP00000369671.2:n.-18-118C>A |