Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.100643519C>T , CM000665.2:g.100643519C>T | GRCh38 |
| NC_000003.11:g.100362363C>T , CM000665.1:g.100362363C>T | GRCh37 |
| NC_000003.10:g.101845053C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032787.3:c.839-7C>T MANE Select | NP_116176.2:n.839-7C>T |
| ENST00000273352.8:c.839-7C>T MANE Select | ENSP00000273352.3:n.839-7C>T |
| NM_001308362.1:c.62-2426C>T | NP_001295291.1:n.62-2426C>T |
| NM_032787.2:c.839-7C>T | NP_116176.2:n.839-7C>T |
| ENST00000273352.7:c.839-7C>T | ENSP00000273352.3:n.839-7C>T |
| ENST00000475887.1:c.62-2426C>T | ENSP00000419788.1:n.62-2426C>T |
| ENST00000481361.1:n.531-7C>T | |
| XM_011513245.1:c.434-7C>T | XP_011511547.1:n.434-7C>T |
| XM_011513245.2:c.434-7C>T | XP_011511547.1:n.434-7C>T |