HGVS | Genome Assembly |
---|---|
NC_000012.12:g.69353411C>A , CM000674.2:g.69353411C>A | GRCh38 |
NC_000012.11:g.69747191C>A , CM000674.1:g.69747191C>A | GRCh37 |
NC_000012.10:g.68033458C>A | NCBI36 |
NG_008195.1:g.10058C>A , LRG_768:g.10058C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261267.7:c.*192C>A MANE Select | ENSP00000261267.2:n.*192C>A | |
ENST00000261267.6:c.*192C>A | ENSP00000261267.2:n.*192C>A | |
ENST00000549690.1:c.*146C>A | ENSP00000449898.1:n.*146C>A | |
NM_000239.2:c.*192C>A , LRG_768t1:c.*192C>A | NP_000230.1:n.*192C>A | |
NM_000239.3:c.*192C>A MANE Select | NP_000230.1:n.*192C>A |