Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227172G>A , CM000673.2:g.5227172G>A | GRCh38 |
| NC_000011.9:g.5248402G>A , CM000673.1:g.5248402G>A | GRCh37 |
| NC_000011.8:g.5204978G>A | NCBI36 |
| NG_000007.3:g.70444C>T | |
| NG_059281.1:g.4900C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000380315.2:c.-18-133C>T | ENSP00000369671.2:n.-18-133C>T |
| ENST00000647020.1:c.-151C>T | ENSP00000494175.1:n.-151C>T |