HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45997705C= , CM000683.2:g.45997705C= | GRCh38 |
NC_000021.8:g.47417619C= , CM000683.1:g.47417619C= | GRCh37 |
NC_000021.7:g.46242047C= | NCBI36 |
NG_008674.1:g.20957C= , LRG_475:g.20957C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000683550.1:n.242C= | ||
ENST00000361866.8:c.1467C= MANE Select | ENSP00000355180.3:p.Ala489= | |
ENST00000361866.7:c.1467C= | ENSP00000355180.3:p.Ala489= | |
ENST00000612273.1:c.1467C= | ENSP00000483630.1:p.Ala489= | |
NM_001848.2:c.1467C= , LRG_475t1:c.1467C= | NP_001839.2:p.Ala489= | |
NM_001848.3:c.1467C= MANE Select | NP_001839.2:p.Ala489= |