Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45113327G>T , CM000677.2:g.45113327G>T | GRCh38 |
| NC_000015.9:g.45405525G>T , CM000677.1:g.45405525G>T | GRCh37 |
| NC_000015.8:g.43192817G>T | NCBI36 |
| NG_009447.1:g.5835C>A | |
| NG_016992.1:g.4003G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001363711.2:c.70+15C>A MANE Select | NP_001350640.1:n.70+15C>A |
| ENST00000389039.11:c.70+15C>A MANE Select | ENSP00000373691.7:n.70+15C>A |
| NM_001363711.1:c.70+15C>A | NP_001350640.1:n.70+15C>A |
| NM_014080.4:c.74+11C>A | NP_054799.4:n.74+11C>A |
| NM_014080.5:c.74+11C>A | NP_054799.4:n.74+11C>A |
| ENST00000389039.10:c.70+15C>A | ENSP00000373691.6:n.70+15C>A |
| ENST00000558383.1:n.117+11C>A | |
| ENST00000603300.1:c.74+11C>A | ENSP00000475084.1:n.74+11C>A |
| XM_005254421.2:c.70+15C>A | XP_005254478.1:n.70+15C>A |