HGVS | Genome Assembly |
---|---|
NC_000002.12:g.27084820C>T , CM000664.2:g.27084820C>T | GRCh38 |
NC_000002.11:g.27307688C>T , CM000664.1:g.27307688C>T | GRCh37 |
NC_000002.10:g.27161192C>T | NCBI36 |
NG_012199.1:g.3078C>T | |
NG_046849.1:g.11254C>T | |
NG_012199.2:g.3078C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380320.9:c.2558-171C>T MANE Select | ENSP00000369677.4:n.2558-171C>T | |
ENST00000380320.8:c.2558-171C>T | ENSP00000369677.4:n.2558-171C>T | |
ENST00000433140.1:c.550-171C>T | ||
NM_007046.3:c.2558-171C>T | NP_008977.1:n.2558-171C>T | |
XM_006711928.2:c.2558-171C>T | XP_006711991.1:n.2558-171C>T | |
NM_007046.4:c.2558-171C>T MANE Select | NP_008977.1:n.2558-171C>T |