Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45110723G>C , CM000677.2:g.45110723G>C | GRCh38 |
| NC_000015.9:g.45402921G>C , CM000677.1:g.45402921G>C | GRCh37 |
| NC_000015.8:g.43190213G>C | NCBI36 |
| NG_009447.1:g.8439C>G | |
| NG_016992.1:g.1399G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001363711.2:c.883-13C>G MANE Select | NP_001350640.1:n.883-13C>G |
| ENST00000389039.11:c.883-13C>G MANE Select | ENSP00000373691.7:n.883-13C>G |
| NM_001363711.1:c.883-13C>G | NP_001350640.1:n.883-13C>G |
| NM_014080.4:c.883-13C>G | NP_054799.4:n.883-13C>G |
| NM_014080.5:c.883-13C>G | NP_054799.4:n.883-13C>G |
| ENST00000389039.10:c.883-13C>G | ENSP00000373691.6:n.883-13C>G |
| ENST00000558383.1:n.1214-13C>G | |
| ENST00000603300.1:c.883-13C>G | ENSP00000475084.1:n.883-13C>G |
| XM_005254421.2:c.883-13C>G | XP_005254478.1:n.883-13C>G |