Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19589865G>T , CM000686.2:g.19589865G>T | GRCh38 |
| NC_000024.9:g.21751751G>T , CM000686.1:g.21751751G>T | GRCh37 |
| NC_000024.8:g.20211139G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686158.1:n.590-218G>T | ||
| ENST00000693214.1:n.2015G>T | ||
| ENST00000445715.6:n.491+253G>T | ||
| ENST00000407724.7:n.836-218G>T | ||
| ENST00000445715.5:n.492-218G>T | ||
| ENST00000447520.5:n.492-218G>T | ||
| ENST00000459719.6:n.1763-218G>T | ||
| ENST00000585549.5:n.134+253G>T | ||
| ENST00000587095.1:n.132+253G>T | ||
| ENST00000588613.5:n.200+253G>T | ||
| ENST00000589075.5:n.174-218G>T | ||
| NR_045128.1:n.515+253G>T | ||
| NR_045129.1:n.516-218G>T |