Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119343682G>A , CM000673.2:g.119343682G>A | GRCh38 |
| NC_000011.9:g.119214392G>A , CM000673.1:g.119214392G>A | GRCh37 |
| NC_000011.8:g.118719602G>A | NCBI36 |
| NG_012235.1:g.7992C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031433.4:c.1124+134C>T (MFRP) MANE Select | NP_113621.1:n.1124+134C>T |
| ENST00000619721.6:c.1124+134C>T (MFRP) MANE Select | ENSP00000481824.1:n.1124+134C>T |
| NM_015645.4:c.-1513+134C>T (C1QTNF5) | NP_056460.1:n.-1513+134C>T |
| NM_015645.5:c.-1513+134C>T (C1QTNF5) | NP_056460.1:n.-1513+134C>T |
| NM_031433.3:c.1124+134C>T (MFRP) | NP_113621.1:n.1124+134C>T |
| ENST00000360167.4:c.899-679C>T (MFRP) | ENSP00000353291.4:n.899-679C>T |
| ENST00000619721.5:c.1124+134C>T (MFRP) | ENSP00000481824.1:n.1124+134C>T |