HGVS | Genome Assembly |
---|---|
NC_000012.12:g.69353352G>A , CM000674.2:g.69353352G>A | GRCh38 |
NC_000012.11:g.69747132G>A , CM000674.1:g.69747132G>A | GRCh37 |
NC_000012.10:g.68033399G>A | NCBI36 |
NG_008195.1:g.9999G>A , LRG_768:g.9999G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261267.7:c.*133G>A MANE Select | ENSP00000261267.2:n.*133G>A | |
ENST00000261267.6:c.*133G>A | ENSP00000261267.2:n.*133G>A | |
ENST00000549690.1:c.*87G>A | ENSP00000449898.1:n.*87G>A | |
NM_000239.2:c.*133G>A , LRG_768t1:c.*133G>A | NP_000230.1:n.*133G>A | |
NM_000239.3:c.*133G>A MANE Select | NP_000230.1:n.*133G>A |