Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34446099A= , CM000673.2:g.34446099A= | GRCh38 |
| NC_000011.9:g.34467646A= , CM000673.1:g.34467646A= | GRCh37 |
| NC_000011.8:g.34424222A= | NCBI36 |
| NG_013339.1:g.12175A= | |
| NG_013339.2:g.12175A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241052.5:c.67-3093A= MANE Select | ENSP00000241052.4:n.67-3093A= | |
| ENST00000241052.4:c.67-3093A= | ENSP00000241052.4:n.67-3093A= | |
| NM_001752.3:c.67-3093A= | NP_001743.1:n.67-3093A= | |
| NM_001752.4:c.67-3093A= MANE Select | NP_001743.1:n.67-3093A= |