Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20192782C= , CM000675.2:g.20192782C= | GRCh38 |
| NC_000013.10:g.20766921C= , CM000675.1:g.20766921C= | GRCh37 |
| NC_000013.9:g.19664921C= | NCBI36 |
| NG_008358.1:g.5194G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004004.6:c.-23+1G= MANE Select | NP_003995.2:n.-23+1G= |
| ENST00000382848.5:c.-23+1G= MANE Select | ENSP00000372299.4:n.-23+1G= |
| NM_004004.5:c.-23+1G= | NP_003995.2:n.-23+1G= |
| ENST00000382848.4:c.-23+1G= | ENSP00000372299.4:n.-23+1G= |