Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19579869C= , CM000686.2:g.19579869C= | GRCh38 |
| NC_000024.9:g.21741755C= , CM000686.1:g.21741755C= | GRCh37 |
| NC_000024.8:g.20201143C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_045128.1:n.126-7341C= | |
| NR_045129.1:n.126-7341C= | |
| ENST00000407724.7:n.171-7341C= | |
| ENST00000445715.5:n.102-7341C= | |
| ENST00000445715.6:n.102-7341C= | |
| ENST00000447202.2:n.124-7341C= | |
| ENST00000447520.5:n.102-7341C= | |
| ENST00000459719.6:n.222-7341C= | |
| ENST00000538014.2:n.241-7341C= | |
| ENST00000686158.1:n.200-7341C= | |
| ENST00000686905.1:n.134-7341C= | |
| ENST00000693214.1:n.222-7341C= |