HGVS | Genome Assembly |
---|---|
NC_000011.10:g.119344346G>A , CM000673.2:g.119344346G>A | GRCh38 |
NC_000011.9:g.119215056G>A , CM000673.1:g.119215056G>A | GRCh37 |
NC_000011.8:g.118720266G>A | NCBI36 |
NG_012235.1:g.7328C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000619721.6:c.944C>T (MFRP) MANE Select | ENSP00000481824.1:p.Pro315Leu | |
ENST00000360167.4:c.898+286C>T (MFRP) | ENSP00000353291.4:n.898+286C>T | |
ENST00000619721.5:c.944C>T (MFRP) | ENSP00000481824.1:p.Pro315Leu | |
NM_015645.4:c.-1693C>T (C1QTNF5) | NP_056460.1:n.-1693C>T | |
NM_031433.3:c.944C>T (MFRP) | NP_113621.1:p.Pro315Leu | |
NM_031433.4:c.944C>T (MFRP) MANE Select | NP_113621.1:p.Pro315Leu | |
NM_015645.5:c.-1693C>T (C1QTNF5) | NP_056460.1:n.-1693C>T |