Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42963250A= , CM000666.2:g.42963250A= | GRCh38 |
| NC_000004.11:g.42965267A= , CM000666.1:g.42965267A= | GRCh37 |
| NC_000004.10:g.42660024A= | NCBI36 |
| NG_027718.1:g.74985A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.627+116A= MANE Select | ENSP00000382670.2:n.627+116A= | |
| ENST00000399770.2:c.627+116A= | ENSP00000382670.2:n.627+116A= | |
| NM_001080476.2:c.627+116A= | NP_001073945.1:n.627+116A= | |
| XM_011513691.1:c.264+116A= | XP_011511993.1:n.264+116A= | |
| NM_001080476.3:c.627+116A= MANE Select | NP_001073945.1:n.627+116A= |