HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118111676G>T , CM000670.2:g.118111676G>T | GRCh38 |
NC_000008.10:g.119123915G>T , CM000670.1:g.119123915G>T | GRCh37 |
NC_000008.9:g.119193096G>T | NCBI36 |
NG_007455.2:g.5144C>A , LRG_493:g.5144C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378204.7:c.-630C>A MANE Select | ENSP00000367446.3:n.-630C>A | |
ENST00000378204.6:c.-630C>A | ENSP00000367446.2:n.-630C>A | |
NM_000127.2:c.-630C>A , LRG_493t1:c.-630C>A | NP_000118.2:n.-630C>A | |
NM_000127.3:c.-630C>A MANE Select | NP_000118.2:n.-630C>A |