HGVS | Genome Assembly |
---|---|
NC_000011.10:g.119341632G>T , CM000673.2:g.119341632G>T | GRCh38 |
NC_000011.9:g.119212342G>T , CM000673.1:g.119212342G>T | GRCh37 |
NC_000011.8:g.118717552G>T | NCBI36 |
NG_012235.1:g.10042C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619721.6:c.1656C>A (MFRP) MANE Select | ENSP00000481824.1:p.Gly552= | |
ENST00000360167.4:c.1302C>A (MFRP) | ENSP00000353291.4:p.Gly434= | |
ENST00000449574.7:c.527C>A (MFRP) | ||
ENST00000619721.5:c.1656C>A (MFRP) | ENSP00000481824.1:p.Gly552= | |
NM_015645.4:c.-981C>A (C1QTNF5) | NP_056460.1:n.-981C>A | |
NM_031433.3:c.1656C>A (MFRP) | NP_113621.1:p.Gly552= | |
NM_031433.4:c.1656C>A (MFRP) MANE Select | NP_113621.1:p.Gly552= | |
NM_015645.5:c.-981C>A (C1QTNF5) | NP_056460.1:n.-981C>A |