Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107078654G= , CM000674.2:g.107078654G= | GRCh38 |
| NC_000012.11:g.107472432G= , CM000674.1:g.107472432G= | GRCh37 |
| NC_000012.10:g.105996562G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004075.5:c.158+14150C= MANE Select | NP_004066.1:n.158+14150C= |
| ENST00000008527.10:c.158+14150C= MANE Select | ENSP00000008527.5:n.158+14150C= |
| NM_004075.4:c.158+14150C= | NP_004066.1:n.158+14150C= |
| ENST00000008527.9:c.158+14150C= | ENSP00000008527.5:n.158+14150C= |
| ENST00000550633.1:n.711-5600C= | |
| XM_017018832.2:c.-46-5600C= | XP_016874321.1:n.-46-5600C= |
| XM_024448844.1:c.158+14150C= | XP_024304612.1:n.158+14150C= |
| XM_024448845.1:c.-46-5600C= | XP_024304613.1:n.-46-5600C= |