Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45100754C>A , CM000677.2:g.45100754C>A | GRCh38 |
| NC_000015.9:g.45392952C>A , CM000677.1:g.45392952C>A | GRCh37 |
| NC_000015.8:g.43180244C>A | NCBI36 |
| NG_009447.1:g.18408G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001363711.2:c.3005+1G>T MANE Select | NP_001350640.1:n.3005+1G>T |
| ENST00000389039.11:c.3005+1G>T MANE Select | ENSP00000373691.7:n.3005+1G>T |
| NM_001363711.1:c.3005+1G>T | NP_001350640.1:n.3005+1G>T |
| NM_014080.4:c.3005+1G>T | NP_054799.4:n.3005+1G>T |
| NM_014080.5:c.3005+1G>T | NP_054799.4:n.3005+1G>T |
| ENST00000389039.10:c.3005+1G>T | ENSP00000373691.6:n.3005+1G>T |
| ENST00000558383.1:n.5620+1G>T | |
| ENST00000603300.1:c.3005+1G>T | ENSP00000475084.1:n.3005+1G>T |
| XM_005254421.2:c.3005+1G>T | XP_005254478.1:n.3005+1G>T |