Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45393797C>A , CM000677.2:g.45393797C>A | GRCh38 |
| NC_000015.9:g.45685995C>A , CM000677.1:g.45685995C>A | GRCh37 |
| NC_000015.8:g.43473287C>A | NCBI36 |
| NG_011674.2:g.13521G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458245.5:n.640+3125G>T | ||
| ENST00000527933.2:n.512+2370G>T | ||
| ENST00000560538.1:n.338+3125G>T | ||
| ENST00000561148.5:c.-319+3125G>T | ENSP00000453860.1:n.-319+3125G>T | |
| XM_011521450.1:c.31+3125G>T | XP_011519752.1:n.31+3125G>T | |
| NM_001321015.1:c.-395+3125G>T | NP_001307944.1:n.-395+3125G>T | |
| NM_001321015.2:c.-395+3125G>T | NP_001307944.1:n.-395+3125G>T |