HGVS | Genome Assembly |
---|---|
NC_000011.10:g.119344340T>A , CM000673.2:g.119344340T>A | GRCh38 |
NC_000011.9:g.119215050T>A , CM000673.1:g.119215050T>A | GRCh37 |
NC_000011.8:g.118720260T>A | NCBI36 |
NG_012235.1:g.7334A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000619721.6:c.950A>T (MFRP) MANE Select | ENSP00000481824.1:p.Tyr317Phe | |
ENST00000360167.4:c.898+292A>T (MFRP) | ENSP00000353291.4:n.898+292A>T | |
ENST00000619721.5:c.950A>T (MFRP) | ENSP00000481824.1:p.Tyr317Phe | |
NM_015645.4:c.-1687A>T (C1QTNF5) | NP_056460.1:n.-1687A>T | |
NM_031433.3:c.950A>T (MFRP) | NP_113621.1:p.Tyr317Phe | |
NM_031433.4:c.950A>T (MFRP) MANE Select | NP_113621.1:p.Tyr317Phe | |
NM_015645.5:c.-1687A>T (C1QTNF5) | NP_056460.1:n.-1687A>T |