Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45584850C>T , CM000681.2:g.45584850C>T | GRCh38 |
| NC_000019.9:g.46088108C>T , CM000681.1:g.46088108C>T | GRCh37 |
| NC_000019.8:g.50779948C>T | NCBI36 |
| NG_013332.1:g.5015G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544371.1:c.-18+17245G>A | ENSP00000442839.1:n.-18+17245G>A | |
| NM_001017989.2:c.-86G>A | NP_001017989.2:n.-86G>A | |
| NM_025136.3:c.-86G>A | NP_079412.1:n.-86G>A |