Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19579817G>T , CM000686.2:g.19579817G>T | GRCh38 |
| NC_000024.9:g.21741703G>T , CM000686.1:g.21741703G>T | GRCh37 |
| NC_000024.8:g.20201091G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_045128.1:n.126-7393G>T | |
| NR_045129.1:n.126-7393G>T | |
| ENST00000407724.7:n.171-7393G>T | |
| ENST00000445715.5:n.102-7393G>T | |
| ENST00000445715.6:n.102-7393G>T | |
| ENST00000447202.2:n.124-7393G>T | |
| ENST00000447520.5:n.102-7393G>T | |
| ENST00000459719.6:n.222-7393G>T | |
| ENST00000538014.2:n.241-7393G>T | |
| ENST00000686158.1:n.200-7393G>T | |
| ENST00000686905.1:n.134-7393G>T | |
| ENST00000693214.1:n.222-7393G>T |