HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94988929G>C , CM000672.2:g.94988929G>C | GRCh38 |
NC_000010.10:g.96748686G>C , CM000672.1:g.96748686G>C | GRCh37 |
NC_000010.9:g.96738676G>C | NCBI36 |
NG_008385.1:g.55272G>C | |
NG_008385.2:g.55772G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.1374G>C MANE Select | ENSP00000260682.6:p.Leu458= | |
ENST00000643112.1:c.*383G>C | ENSP00000496202.1:n.*383G>C | |
ENST00000260682.6:c.1374G>C | ENSP00000260682.6:p.Leu458= | |
NM_000771.3:c.1374G>C | NP_000762.2:p.Leu458= | |
NM_000771.4:c.1374G>C MANE Select | NP_000762.2:p.Leu458= |