Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6720961C>T , CM000681.2:g.6720961C>T | GRCh38 |
| NC_000019.9:g.6720972C>T , CM000681.1:g.6720972C>T | GRCh37 |
| NC_000019.8:g.6671972C>T | NCBI36 |
| NG_009557.1:g.4691G>A , LRG_27:g.4691G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000600744.1:c.-49-1558G>A | ENSP00000472044.1:n.-49-1558G>A |