Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19466414G= , CM000686.2:g.19466414G= | GRCh38 |
| NC_000024.9:g.21628300G= , CM000686.1:g.21628300G= | GRCh37 |
| NC_000024.8:g.20087688G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_002923.2:n.1671+42C= | |
| NR_033732.1:n.1671+42C= | |
| ENST00000400605.5:n.1654+42C= | |
| ENST00000441139.5:n.1671+42C= | |
| ENST00000513194.1:n.4579+30C= | |
| ENST00000650676.1:n.1660+42C= |