Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72376038C>T , CM000677.2:g.72376038C>T | GRCh38 |
| NC_000015.9:g.72668379C>T , CM000677.1:g.72668379C>T | GRCh37 |
| NC_000015.8:g.70455433C>T | NCBI36 |
| NG_009017.1:g.5142G>A | |
| NG_009017.2:g.5142G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268097.9:c.-66G>A | ENSP00000268097.5:n.-66G>A | |
| ENST00000569509.5:n.147-207G>A | ||
| NM_000520.4:c.-66G>A | NP_000511.2:n.-66G>A | |
| NM_000520.5:c.-66G>A | NP_000511.2:n.-66G>A | |
| NM_001318825.1:c.-66G>A | NP_001305754.1:n.-66G>A | |
| NR_134869.1:n.436G>A |