HGVS | Genome Assembly |
---|---|
NC_000002.12:g.201623507G>A , CM000664.2:g.201623507G>A | GRCh38 |
NC_000002.11:g.202488230G>A , CM000664.1:g.202488230G>A | GRCh37 |
NC_000002.10:g.202196475G>A | NCBI36 |
NG_032049.1:g.25023C>T | |
NG_051007.1:g.676C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000621467.5:c.*748C>T | ENSP00000480508.2:n.*748C>T | |
ENST00000686475.1:n.1915C>T | ||
ENST00000409883.7:c.*748C>T MANE Select | ENSP00000386264.2:n.*748C>T | |
ENST00000409444.6:c.*748C>T | ENSP00000387203.2:n.*748C>T | |
ENST00000409883.6:c.*748C>T | ENSP00000386264.2:n.*748C>T | |
ENST00000495329.1:n.1114C>T | ||
NM_001044385.2:c.*748C>T | NP_001037850.1:n.*748C>T | |
NM_152388.3:c.*748C>T | NP_689601.2:n.*748C>T | |
NM_001044385.3:c.*748C>T MANE Select | NP_001037850.1:n.*748C>T | |
NM_152388.4:c.*748C>T | NP_689601.2:n.*748C>T |