Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35797166T= , CM000668.2:g.35797166T= | GRCh38 |
| NC_000006.11:g.35764943T= , CM000668.1:g.35764943T= | GRCh37 |
| NC_000006.10:g.35872921T= | NCBI36 |
| NG_012184.3:g.4961T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001832.4:c.84+39A= MANE Select | NP_001823.1:n.84+39A= |
| ENST00000259938.7:c.84+39A= MANE Select | ENSP00000259938.2:n.84+39A= |
| NM_001252597.1:c.-57+39A= | NP_001239526.1:n.-57+39A= |
| NM_001252597.2:c.-57+39A= | NP_001239526.1:n.-57+39A= |
| NM_001252598.1:c.84+39A= | NP_001239527.1:n.84+39A= |
| NM_001252598.2:c.84+39A= | NP_001239527.1:n.84+39A= |
| NM_001832.3:c.84+39A= | NP_001823.1:n.84+39A= |
| ENST00000259938.6:c.84+39A= | ENSP00000259938.2:n.84+39A= |
| ENST00000616014.3:c.84+39A= | ENSP00000483589.1:n.84+39A= |