Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19589665C= , CM000686.2:g.19589665C= | GRCh38 |
| NC_000024.9:g.21751551C= , CM000686.1:g.21751551C= | GRCh37 |
| NC_000024.8:g.20210939C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_045128.1:n.515+53C= | |
| NR_045129.1:n.515+53C= | |
| ENST00000407724.7:n.835+53C= | |
| ENST00000445715.5:n.491+53C= | |
| ENST00000445715.6:n.491+53C= | |
| ENST00000447202.2:n.2579C= | |
| ENST00000447520.5:n.491+53C= | |
| ENST00000459719.6:n.1762+53C= | |
| ENST00000538014.2:n.1834C= | |
| ENST00000585549.5:n.134+53C= | |
| ENST00000587095.1:n.132+53C= | |
| ENST00000588613.5:n.200+53C= | |
| ENST00000589075.5:n.173+53C= | |
| ENST00000686158.1:n.589+53C= | |
| ENST00000686905.1:n.1727C= | |
| ENST00000693214.1:n.1815C= |