Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20192646G= , CM000675.2:g.20192646G= | GRCh38 |
| NC_000013.10:g.20766785G= , CM000675.1:g.20766785G= | GRCh37 |
| NC_000013.9:g.19664785G= | NCBI36 |
| NG_008358.1:g.5330C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382848.5:c.-23+137C= MANE Select | ENSP00000372299.4:n.-23+137C= | |
| ENST00000382848.4:c.-23+137C= | ENSP00000372299.4:n.-23+137C= | |
| NM_004004.5:c.-23+137C= | NP_003995.2:n.-23+137C= | |
| NM_004004.6:c.-23+137C= MANE Select | NP_003995.2:n.-23+137C= |