HGVS | Genome Assembly |
---|---|
NC_000011.10:g.119341735C>G , CM000673.2:g.119341735C>G | GRCh38 |
NC_000011.9:g.119212445C>G , CM000673.1:g.119212445C>G | GRCh37 |
NC_000011.8:g.118717655C>G | NCBI36 |
NG_012235.1:g.9939G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619721.6:c.1553G>C (MFRP) MANE Select | ENSP00000481824.1:p.Arg518Thr | |
ENST00000360167.4:c.1199G>C (MFRP) | ENSP00000353291.4:p.Arg400Thr | |
ENST00000449574.7:c.424G>C (MFRP) | ||
ENST00000619721.5:c.1553G>C (MFRP) | ENSP00000481824.1:p.Arg518Thr | |
NM_015645.4:c.-1084G>C (C1QTNF5) | NP_056460.1:n.-1084G>C | |
NM_031433.3:c.1553G>C (MFRP) | NP_113621.1:p.Arg518Thr | |
NM_031433.4:c.1553G>C (MFRP) MANE Select | NP_113621.1:p.Arg518Thr | |
NM_015645.5:c.-1084G>C (C1QTNF5) | NP_056460.1:n.-1084G>C |