Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119344455C= , CM000673.2:g.119344455C= | GRCh38 |
| NC_000011.9:g.119215165C= , CM000673.1:g.119215165C= | GRCh37 |
| NC_000011.8:g.118720375C= | NCBI36 |
| NG_012235.1:g.7219G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031433.4:c.899-64G= (MFRP) MANE Select | NP_113621.1:n.899-64G= |
| ENST00000619721.6:c.899-64G= (MFRP) MANE Select | ENSP00000481824.1:n.899-64G= |
| NM_015645.4:c.-1738-64G= (C1QTNF5) | NP_056460.1:n.-1738-64G= |
| NM_015645.5:c.-1738-64G= (C1QTNF5) | NP_056460.1:n.-1738-64G= |
| NM_031433.3:c.899-64G= (MFRP) | NP_113621.1:n.899-64G= |
| ENST00000360167.4:c.898+177G= (MFRP) | ENSP00000353291.4:n.898+177G= |
| ENST00000619721.5:c.899-64G= (MFRP) | ENSP00000481824.1:n.899-64G= |