HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48968380C>T , CM000681.2:g.48968380C>T | GRCh38 |
NC_000019.9:g.49471637C>T , CM000681.1:g.49471637C>T | GRCh37 |
NC_000019.8:g.54163449C>T | NCBI36 |
NG_008152.1:g.8072C>T | |
NG_012923.1:g.29974G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000323798.8:c.*908G>A MANE Select | ENSP00000317904.3:n.*908G>A | |
ENST00000263276.6:c.*908G>A | ENSP00000263276.6:n.*908G>A | |
ENST00000323798.7:c.*908G>A | ENSP00000317904.3:n.*908G>A | |
NM_001161587.1:c.*908G>A | NP_001155059.1:n.*908G>A | |
NM_002103.4:c.*908G>A | NP_002094.2:n.*908G>A | |
NR_027763.1:n.3181G>A | ||
NM_002103.5:c.*908G>A MANE Select | NP_002094.2:n.*908G>A | |
NM_001161587.2:c.*908G>A | NP_001155059.1:n.*908G>A | |
NR_027763.2:n.3137G>A |