Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119341314G>T , CM000673.2:g.119341314G>T | GRCh38 |
| NC_000011.9:g.119212024G>T , CM000673.1:g.119212024G>T | GRCh37 |
| NC_000011.8:g.118717234G>T | NCBI36 |
| NG_012235.1:g.10360C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031433.4:c.*234C>A (MFRP) MANE Select | NP_113621.1:n.*234C>A |
| ENST00000619721.6:c.*234C>A (MFRP) MANE Select | ENSP00000481824.1:n.*234C>A |
| NM_015645.4:c.-663C>A (C1QTNF5) | NP_056460.1:n.-663C>A |
| NM_015645.5:c.-663C>A (C1QTNF5) | NP_056460.1:n.-663C>A |
| NM_031433.3:c.*234C>A (MFRP) | NP_113621.1:n.*234C>A |
| ENST00000619721.5:c.*234C>A (MFRP) | ENSP00000481824.1:n.*234C>A |