Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13836330T>C , CM000686.2:g.13836330T>C | GRCh38 |
| NC_000024.9:g.15948210T>C , CM000686.1:g.15948210T>C | GRCh37 |
| NC_000024.8:g.14457604T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652544.1:n.685-22187T>C | ||
| ENST00000430079.5:n.478-18114T>C | ||
| ENST00000460561.1:n.261-22187T>C | ||
| ENST00000472227.5:n.399-22172T>C |