Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.22877756G>A , CM000678.2:g.22877756G>A | GRCh38 |
| NC_000016.9:g.22889077G>A , CM000678.1:g.22889077G>A | GRCh37 |
| NC_000016.8:g.22796578G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261374.4:c.486-37188G>A MANE Select | ENSP00000261374.3:n.486-37188G>A | |
| ENST00000261374.3:c.486-37188G>A | ENSP00000261374.3:n.486-37188G>A | |
| ENST00000473392.1:c.*287+22975G>A | ENSP00000454505.1:n.*287+22975G>A | |
| NM_006043.1:c.486-37188G>A | NP_006034.1:n.486-37188G>A | |
| NM_006043.2:c.486-37188G>A MANE Select | NP_006034.1:n.486-37188G>A |