Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45112541C>G , CM000677.2:g.45112541C>G | GRCh38 |
| NC_000015.9:g.45404739C>G , CM000677.1:g.45404739C>G | GRCh37 |
| NC_000015.8:g.43192031C>G | NCBI36 |
| NG_009447.1:g.6621G>C | |
| NG_016992.1:g.3217C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001363711.2:c.325+13G>C MANE Select | NP_001350640.1:n.325+13G>C |
| ENST00000389039.11:c.325+13G>C MANE Select | ENSP00000373691.7:n.325+13G>C |
| NM_001363711.1:c.325+13G>C | NP_001350640.1:n.325+13G>C |
| NM_014080.4:c.325+13G>C | NP_054799.4:n.325+13G>C |
| NM_014080.5:c.325+13G>C | NP_054799.4:n.325+13G>C |
| ENST00000389039.10:c.325+13G>C | ENSP00000373691.6:n.325+13G>C |
| ENST00000558383.1:n.368+13G>C | |
| ENST00000603300.1:c.325+13G>C | ENSP00000475084.1:n.325+13G>C |
| XM_005254421.2:c.325+13G>C | XP_005254478.1:n.325+13G>C |