Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72376019T>C , CM000677.2:g.72376019T>C | GRCh38 |
| NC_000015.9:g.72668360T>C , CM000677.1:g.72668360T>C | GRCh37 |
| NC_000015.8:g.70455414T>C | NCBI36 |
| NG_009017.1:g.5161A>G | |
| NG_009017.2:g.5161A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268097.9:c.-47A>G | ENSP00000268097.5:n.-47A>G | |
| ENST00000569509.5:n.147-188A>G | ||
| NM_000520.4:c.-47A>G | NP_000511.2:n.-47A>G | |
| NM_000520.5:c.-47A>G | NP_000511.2:n.-47A>G | |
| NM_001318825.1:c.-47A>G | NP_001305754.1:n.-47A>G | |
| NR_134869.1:n.455A>G |