Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133527184G>C , CM000672.2:g.133527184G>C | GRCh38 |
| NC_000010.10:g.135340688G>C , CM000672.1:g.135340688G>C | GRCh37 |
| NC_000010.9:g.135190678G>C | NCBI36 |
| NG_008383.1:g.4822G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463117.6:c.-39-173G>C | ENSP00000440689.1:n.-39-173G>C | |
| ENST00000541261.1:c.-39-173G>C | ENSP00000437799.1:n.-39-173G>C |