HGVS | Genome Assembly |
---|---|
NC_000011.10:g.119341622G>C , CM000673.2:g.119341622G>C | GRCh38 |
NC_000011.9:g.119212332G>C , CM000673.1:g.119212332G>C | GRCh37 |
NC_000011.8:g.118717542G>C | NCBI36 |
NG_012235.1:g.10052C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619721.6:c.1666C>G (MFRP) MANE Select | ENSP00000481824.1:p.Leu556Val | |
ENST00000360167.4:c.1312C>G (MFRP) | ENSP00000353291.4:p.Leu438Val | |
ENST00000449574.7:c.537C>G (MFRP) | ||
ENST00000619721.5:c.1666C>G (MFRP) | ENSP00000481824.1:p.Leu556Val | |
NM_015645.4:c.-971C>G (C1QTNF5) | NP_056460.1:n.-971C>G | |
NM_031433.3:c.1666C>G (MFRP) | NP_113621.1:p.Leu556Val | |
NM_031433.4:c.1666C>G (MFRP) MANE Select | NP_113621.1:p.Leu556Val | |
NM_015645.5:c.-971C>G (C1QTNF5) | NP_056460.1:n.-971C>G |