Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.14436521T>G , CM000672.2:g.14436521T>G | GRCh38 |
| NC_000010.10:g.14478520T>G , CM000672.1:g.14478520T>G | GRCh37 |
| NC_000010.9:g.14518526T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475141.2:c.-305+25547A>C | ENSP00000473870.1:n.-305+25547A>C | |
| ENST00000493380.5:c.-82+25547A>C | ENSP00000474863.1:n.-82+25547A>C |