Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243787C>T , CM000673.2:g.72243787C>T | GRCh38 |
| NC_000011.9:g.71954831C>T , CM000673.1:g.71954831C>T | GRCh37 |
| NC_000011.8:g.71632479C>T | NCBI36 |
| NG_008169.1:g.5390G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005169.4:c.217+1G>A MANE Select | NP_005160.2:n.217+1G>A |
| ENST00000298231.5:c.217+1G>A MANE Select | ENSP00000298231.5:n.217+1G>A |
| NM_005169.3:c.217+1G>A | NP_005160.2:n.217+1G>A |
| ENST00000544057.1:n.85+1793G>A |