HGVS | Genome Assembly |
---|---|
NC_000002.12:g.201623432G>T , CM000664.2:g.201623432G>T | GRCh38 |
NC_000002.11:g.202488155G>T , CM000664.1:g.202488155G>T | GRCh37 |
NC_000002.10:g.202196400G>T | NCBI36 |
NG_032049.1:g.25098C>A | |
NG_051007.1:g.751C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000621467.5:c.*823C>A | ENSP00000480508.2:n.*823C>A | |
ENST00000686475.1:n.1990C>A | ||
ENST00000409883.7:c.*823C>A MANE Select | ENSP00000386264.2:n.*823C>A | |
ENST00000409444.6:c.*823C>A | ENSP00000387203.2:n.*823C>A | |
ENST00000409883.6:c.*823C>A | ENSP00000386264.2:n.*823C>A | |
ENST00000495329.1:n.1189C>A | ||
NM_001044385.2:c.*823C>A | NP_001037850.1:n.*823C>A | |
NM_152388.3:c.*823C>A | NP_689601.2:n.*823C>A | |
NM_001044385.3:c.*823C>A MANE Select | NP_001037850.1:n.*823C>A | |
NM_152388.4:c.*823C>A | NP_689601.2:n.*823C>A |