Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71483431C= , CM000673.2:g.71483431C= | GRCh38 |
| NC_000011.9:g.71194477C= , CM000673.1:g.71194477C= | GRCh37 |
| NC_000011.8:g.70872125C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319023.7:c.1319+414C= MANE Select | ENSP00000326424.2:n.1319+414C= | |
| ENST00000319023.6:c.1319+414C= | ENSP00000326424.2:n.1319+414C= | |
| ENST00000524450.1:n.295+414C= | ||
| ENST00000525200.5:c.2625+414C= | ||
| ENST00000526039.6:n.494+414C= | ||
| ENST00000529840.5:c.206+414C= | ENSP00000437172.1:n.206+414C= | |
| ENST00000530055.5:c.206+414C= | ENSP00000431820.1:n.206+414C= | |
| ENST00000531236.1:n.1384+414C= | ||
| NM_018161.4:c.1319+414C= | NP_060631.2:n.1319+414C= | |
| NM_018161.5:c.1319+414C= MANE Select | NP_060631.2:n.1319+414C= |