Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152840G>T , CM000677.2:g.80152840G>T | GRCh38 |
| NC_000015.9:g.80445182G>T , CM000677.1:g.80445182G>T | GRCh37 |
| NC_000015.8:g.78232237G>T | NCBI36 |
| NG_012833.1:g.4842G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-215G>T | ENSP00000507680.1:n.-215G>T | |
| ENST00000261755.9:c.-31G>T | ENSP00000261755.5:n.-31G>T | |
| ENST00000407106.5:c.-95G>T | ENSP00000385080.1:n.-95G>T | |
| ENST00000537726.5:n.52G>T | ||
| ENST00000558022.5:c.-29-186G>T | ENSP00000453152.1:n.-29-186G>T | |
| ENST00000558767.5:n.47G>T | ||
| XM_024449872.1:c.-95G>T | XP_024305640.1:n.-95G>T | |
| NM_001374377.1:c.-95G>T | NP_001361306.1:n.-95G>T | |
| NM_001374380.1:c.-31G>T | NP_001361309.1:n.-31G>T |