Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91108473A= , CM000674.2:g.91108473A= | GRCh38 |
| NC_000012.11:g.91502250A= , CM000674.1:g.91502250A= | GRCh37 |
| NC_000012.10:g.90026381A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002345.4:c.507T= MANE Select | NP_002336.1:p.Asn169= |
| ENST00000266718.5:c.507T= MANE Select | ENSP00000266718.4:p.Asn169= |
| NM_002345.3:c.507T= | NP_002336.1:p.Asn169= |
| ENST00000266718.4:c.507T= | ENSP00000266718.4:p.Asn169= |
| ENST00000546642.1:n.257T= | |
| ENST00000548071.1:n.90-190T= |