Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35648270G>A , CM000681.2:g.35648270G>A | GRCh38 |
| NC_000019.9:g.36139172G>A , CM000681.1:g.36139172G>A | GRCh37 |
| NC_000019.8:g.40831012G>A | NCBI36 |
| NG_012193.1:g.5018G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001863.4:c.-145G>A | NP_001854.1:n.-145G>A |
| ENST00000246554.7:c.-145G>A | ENSP00000246554.2:n.-145G>A |