Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20192805G>T , CM000675.2:g.20192805G>T | GRCh38 |
| NC_000013.10:g.20766944G>T , CM000675.1:g.20766944G>T | GRCh37 |
| NC_000013.9:g.19664944G>T | NCBI36 |
| NG_008358.1:g.5171C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382848.5:c.-45C>A MANE Select | ENSP00000372299.4:n.-45C>A | |
| ENST00000382848.4:c.-45C>A | ENSP00000372299.4:n.-45C>A | |
| NM_004004.5:c.-45C>A | NP_003995.2:n.-45C>A | |
| NM_004004.6:c.-45C>A MANE Select | NP_003995.2:n.-45C>A |