HGVS | Genome Assembly |
---|---|
NC_000002.12:g.47377050G>C , CM000664.2:g.47377050G>C | GRCh38 |
NC_000002.11:g.47604189G>C , CM000664.1:g.47604189G>C | GRCh37 |
NC_000002.10:g.47457693G>C | NCBI36 |
NG_012352.2:g.36888G>C , LRG_215:g.36888G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263735.9:c.528G>C MANE Select | ENSP00000263735.4:p.Leu176= | |
ENST00000263735.8:c.528G>C | ENSP00000263735.4:p.Leu176= | |
ENST00000405271.5:c.612G>C | ENSP00000385476.1:p.Leu204= | |
ENST00000456133.5:c.612G>C | ENSP00000410675.1:p.Leu204= | |
ENST00000490733.1:n.377G>C | ||
NM_002354.2:c.528G>C , LRG_215t1:c.528G>C | NP_002345.2:p.Leu176= | |
NM_002354.3:c.528G>C MANE Select | NP_002345.2:p.Leu176= |