Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6722011G>T , CM000681.2:g.6722011G>T | GRCh38 |
| NC_000019.9:g.6722022G>T , CM000681.1:g.6722022G>T | GRCh37 |
| NC_000019.8:g.6673022G>T | NCBI36 |
| NG_009557.1:g.3641C>A , LRG_27:g.3641C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000600744.1:c.-50+1430C>A | ENSP00000472044.1:n.-50+1430C>A |