Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43070938C>T , CM000677.2:g.43070938C>T | GRCh38 |
| NC_000015.9:g.43363136C>T , CM000677.1:g.43363136C>T | GRCh37 |
| NC_000015.8:g.41150428C>T | NCBI36 |
| NG_012182.1:g.40151G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.529-13G>A MANE Select | NP_777576.1:n.529-13G>A |
| ENST00000290650.9:c.529-13G>A MANE Select | ENSP00000290650.4:n.529-13G>A |
| NM_174916.2:c.529-13G>A | NP_777576.1:n.529-13G>A |
| ENST00000290650.8:c.529-13G>A | ENSP00000290650.4:n.529-13G>A |
| ENST00000546274.6:c.529-13G>A | ENSP00000477932.1:n.529-13G>A |
| ENST00000563239.1:c.*176-13G>A | ENSP00000456502.1:n.*176-13G>A |