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