Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30539242T= , CM000675.2:g.30539242T= | GRCh38 |
| NC_000013.10:g.31113379T= , CM000675.1:g.31113379T= | GRCh37 |
| NC_000013.9:g.30011379T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001313893.1:c.-14-75548A= | NP_001300822.1:n.-14-75548A= |
| NM_001370340.1:c.-14-75548A= | NP_001357269.1:n.-14-75548A= |
| ENST00000405805.5:c.-14-75548A= | ENSP00000384678.1:n.-14-75548A= |
| XM_024449340.1:c.-14-75548A= | XP_024305108.1:n.-14-75548A= |