HGVS | Genome Assembly |
---|---|
NC_000011.10:g.119344345G>T , CM000673.2:g.119344345G>T | GRCh38 |
NC_000011.9:g.119215055G>T , CM000673.1:g.119215055G>T | GRCh37 |
NC_000011.8:g.118720265G>T | NCBI36 |
NG_012235.1:g.7329C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000619721.6:c.945C>A (MFRP) MANE Select | ENSP00000481824.1:p.Pro315= | |
ENST00000360167.4:c.898+287C>A (MFRP) | ENSP00000353291.4:n.898+287C>A | |
ENST00000619721.5:c.945C>A (MFRP) | ENSP00000481824.1:p.Pro315= | |
NM_015645.4:c.-1692C>A (C1QTNF5) | NP_056460.1:n.-1692C>A | |
NM_031433.3:c.945C>A (MFRP) | NP_113621.1:p.Pro315= | |
NM_031433.4:c.945C>A (MFRP) MANE Select | NP_113621.1:p.Pro315= | |
NM_015645.5:c.-1692C>A (C1QTNF5) | NP_056460.1:n.-1692C>A |