HGVS | Genome Assembly |
---|---|
NC_000001.11:g.192812156C>A , CM000663.2:g.192812156C>A | GRCh38 |
NC_000001.10:g.192781286C>A , CM000663.1:g.192781286C>A | GRCh37 |
NC_000001.9:g.191047909C>A | NCBI36 |
NG_012800.1:g.8118C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000235382.7:c.*560C>A MANE Select | ENSP00000235382.5:n.*560C>A | |
ENST00000235382.6:c.*560C>A | ENSP00000235382.5:n.*560C>A | |
NM_002923.3:c.*560C>A | NP_002914.1:n.*560C>A | |
NM_002923.4:c.*560C>A MANE Select | NP_002914.1:n.*560C>A |