HGVS | Genome Assembly |
---|---|
NC_000011.10:g.1231478G>C , CM000673.2:g.1231478G>C | GRCh38 |
NC_000011.9:g.1252708G>C , CM000673.1:g.1252708G>C | GRCh37 |
NC_000011.8:g.1209284G>C | NCBI36 |
NG_031880.1:g.13414G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000525715.5:n.1654G>C | ||
ENST00000529681.5:c.1596G>C MANE Select | ENSP00000436812.1:p.Leu532= | |
NM_002458.2:c.1596G>C | NP_002449.2:p.Leu532= | |
NM_002458.3:c.1596G>C MANE Select | NP_002449.2:p.Leu532= |