Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133526880C= , CM000672.2:g.133526880C= | GRCh38 |
| NC_000010.10:g.135340384C= , CM000672.1:g.135340384C= | GRCh37 |
| NC_000010.9:g.135190374C= | NCBI36 |
| NG_008383.1:g.4518C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463117.6:c.-40+7C= | ENSP00000440689.1:n.-40+7C= | |
| ENST00000541261.1:c.-40+7C= | ENSP00000437799.1:n.-40+7C= |