HGVS | Genome Assembly |
---|---|
NC_000011.10:g.119344348A>C , CM000673.2:g.119344348A>C | GRCh38 |
NC_000011.9:g.119215058A>C , CM000673.1:g.119215058A>C | GRCh37 |
NC_000011.8:g.118720268A>C | NCBI36 |
NG_012235.1:g.7326T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000619721.6:c.942T>G (MFRP) MANE Select | ENSP00000481824.1:p.Thr314= | |
ENST00000360167.4:c.898+284T>G (MFRP) | ENSP00000353291.4:n.898+284T>G | |
ENST00000619721.5:c.942T>G (MFRP) | ENSP00000481824.1:p.Thr314= | |
NM_015645.4:c.-1695T>G (C1QTNF5) | NP_056460.1:n.-1695T>G | |
NM_031433.3:c.942T>G (MFRP) | NP_113621.1:p.Thr314= | |
NM_031433.4:c.942T>G (MFRP) MANE Select | NP_113621.1:p.Thr314= | |
NM_015645.5:c.-1695T>G (C1QTNF5) | NP_056460.1:n.-1695T>G |