HGVS | Genome Assembly |
---|---|
NC_000021.9:g.46001278C>A , CM000683.2:g.46001278C>A | GRCh38 |
NC_000021.8:g.47421192C>A , CM000683.1:g.47421192C>A | GRCh37 |
NC_000021.7:g.46245620C>A | NCBI36 |
NG_008674.1:g.24530C>A , LRG_475:g.24530C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463060.6:n.247C>A | ||
ENST00000361866.8:c.1848C>A MANE Select | ENSP00000355180.3:p.Leu616= | |
ENST00000361866.7:c.1848C>A | ENSP00000355180.3:p.Leu616= | |
ENST00000463060.5:n.247C>A | ||
ENST00000498614.5:n.82C>A | ||
ENST00000612273.1:c.1842C>A | ENSP00000483630.1:p.Leu614= | |
NM_001848.2:c.1848C>A , LRG_475t1:c.1848C>A | NP_001839.2:p.Leu616= | |
NM_001848.3:c.1848C>A MANE Select | NP_001839.2:p.Leu616= |