HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67583891C>T , CM000673.2:g.67583891C>T | GRCh38 |
NC_000011.9:g.67351362C>T , CM000673.1:g.67351362C>T | GRCh37 |
NC_000011.8:g.67107938C>T | NCBI36 |
NG_012075.1:g.5297C>T , LRG_723:g.5297C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.1+47C>T | ENSP00000381604.1:n.1+47C>T | |
ENST00000398606.10:c.1+47C>T MANE Select | ENSP00000381607.3:n.1+47C>T | |
ENST00000646888.1:c.1+47C>T | ENSP00000494477.1:n.1+47C>T | |
ENST00000398603.5:c.1+47C>T | ENSP00000381604.1:n.1+47C>T | |
ENST00000398606.7:c.1+47C>T | ENSP00000381607.3:n.1+47C>T | |
ENST00000494593.1:n.23+47C>T | ||
NM_000852.3:c.1+47C>T , LRG_723t1:c.1+47C>T | NP_000843.1:n.1+47C>T | |
NM_000852.4:c.1+47C>T MANE Select | NP_000843.1:n.1+47C>T |